NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=)
|
rs904783
|
0.99962
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala)
|
rs7199961
|
0.99603
|
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)
|
rs1529978
|
0.99487
|
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)
|
rs10932258
|
0.99262
|
NM_024915.4(GRHL2):c.-24C>G
|
rs515622
|
0.98894
|
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
NM_001367624.2(ZNF469):c.*788G>A
|
rs3894713
|
0.98791
|
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)
|
rs2476958
|
0.98672
|
NM_021615.5(CHST6):c.*1967C>T
|
rs42967
|
0.97576
|
NM_015040.4(PIKFYVE):c.*209G>C
|
rs10208295
|
0.93103
|
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)
|
rs2118297
|
0.93088
|
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)
|
rs893253
|
0.92807
|
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)
|
rs1529979
|
0.92765
|
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)
|
rs10932259
|
0.92756
|
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)
|
rs893254
|
0.92740
|
NM_015040.4(PIKFYVE):c.5435-47A>G
|
rs994696
|
0.92719
|
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)
|
rs994697
|
0.92712
|
NM_015040.4(PIKFYVE):c.*128G>T
|
rs10208191
|
0.92697
|
NM_015040.4(PIKFYVE):c.5028-8G>A
|
rs2304544
|
0.92690
|
NM_015040.4(PIKFYVE):c.1321-42C>T
|
rs893256
|
0.92654
|
NM_000494.4(COL17A1):c.1465+48A>G
|
rs805696
|
0.92652
|
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=)
|
rs9931465
|
0.89293
|
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)
|
rs9938800
|
0.89252
|
NM_207352.4(CYP4V2):c.*1781A>C
|
rs6842047
|
0.89083
|
NM_207352.4(CYP4V2):c.*725C>T
|
rs10033577
|
0.89040
|
NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)
|
rs12927001
|
0.86712
|
NM_012293.3(PXDN):c.3921A>G (p.Val1307=)
|
rs6730800
|
0.86660
|
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)
|
rs12445417
|
0.85761
|
NM_198252.3(GSN):c.1417-22T>C
|
rs306769
|
0.85170
|
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser)
|
rs805698
|
0.84905
|
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)
|
rs11640794
|
0.84448
|
NM_012293.3(PXDN):c.4206+79G>A
|
rs6742040
|
0.84241
|
NM_021615.5(CHST6):c.*5286A>T
|
rs9923834
|
0.82602
|
NM_207352.4(CYP4V2):c.*741C>T
|
rs10033581
|
0.81342
|
NM_198252.3(GSN):c.1763-34G>A
|
rs306771
|
0.80923
|
NM_001367624.2(ZNF469):c.*1001A>G
|
rs3848234
|
0.80892
|
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=)
|
rs4782301
|
0.77860
|
NM_000104.4(CYP1B1):c.*695G>T
|
rs10916
|
0.76280
|
NM_012293.3(PXDN):c.1567+67C>T
|
rs12475392
|
0.75111
|
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)
|
rs805722
|
0.72600
|
NM_000494.4(COL17A1):c.3278-9C>G
|
rs2274098
|
0.72589
|
NM_001174089.2(SLC4A11):c.1415+97T>G
|
rs3810561
|
0.72417
|
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)
|
rs2274100
|
0.72299
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)
|
rs4918079
|
0.71960
|
NM_000494.4(COL17A1):c.3208+16C>T
|
rs2282437
|
0.71950
|
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=)
|
rs2296219
|
0.71801
|
NM_012293.3(PXDN):c.1836T>C (p.Asn612=)
|
rs17841813
|
0.71557
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)
|
rs2304545
|
0.70349
|
NM_000104.4(CYP1B1):c.*350C>A
|
rs162562
|
0.67224
|
NM_021615.5(CHST6):c.*5445G>A
|
rs10871313
|
0.66442
|
NM_001174089.2(SLC4A11):c.44-400C>G
|
rs3810562
|
0.65483
|
NM_001400277.1(SLC4A11):c.-15+100T>C
|
rs6107260
|
0.65355
|
NM_021220.4(OVOL2):c.512-4T>G
|
rs2281543
|
0.64769
|
NM_007035.4(KERA):c.69G>A (p.Val23=)
|
rs2735333
|
0.64254
|
NM_005202.4(COL8A2):c.193+34C>T
|
rs274754
|
0.62904
|
NM_001174089.2(SLC4A11):c.1489+141T>C
|
rs6139039
|
0.62765
|
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)
|
rs3736455
|
0.62273
|
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)
|
rs13146272
|
0.60911
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met)
|
rs805708
|
0.59454
|
NM_021615.5(CHST6):c.*242_*243insG
|
rs11436257
|
0.58387
|
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=)
|
rs805701
|
0.56681
|
NM_021615.5(CHST6):c.*3819G>C
|
rs8063068
|
0.54358
|
NM_001083962.2(TCF4):c.789+23C>T
|
rs1788027
|
0.53241
|
NM_021615.5(CHST6):c.*1919C>T
|
rs7194035
|
0.52511
|
NM_021615.5(CHST6):c.*2024C>G
|
rs7193828
|
0.52124
|
NM_021615.5(CHST6):c.*4305T>C
|
rs11641249
|
0.51737
|
NM_001174089.2(SLC4A11):c.729+140C>A
|
rs2144771
|
0.50909
|
NM_021615.5(CHST6):c.*1566T>G
|
rs4888432
|
0.50768
|
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)
|
rs1056837
|
0.49486
|
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)
|
rs3827075
|
0.49054
|
NM_000104.4(CYP1B1):c.*975A>G
|
rs2855658
|
0.48745
|
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)
|
rs11651270
|
0.47552
|
NM_021615.5(CHST6):c.*3742C>T
|
rs56116092
|
0.47041
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_207352.4(CYP4V2):c.*1236A>T
|
rs1053094
|
0.45426
|
NM_001174089.2(SLC4A11):c.44-121G>C
|
rs3827076
|
0.44987
|
NM_002353.3(TACSTD2):c.*280T>C
|
rs3551
|
0.44624
|
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
NM_001174089.2(SLC4A11):c.1043-15A>C
|
rs3803953
|
0.43502
|
NM_000494.4(COL17A1):c.2398+19G>A
|
rs813944
|
0.43385
|
NM_019040.5(ELP4):c.*4250C>T
|
rs12421026
|
0.42881
|
NM_207352.4(CYP4V2):c.-146C>T
|
rs1398007
|
0.41622
|
NM_001174089.2(SLC4A11):c.2193-18C>T
|
rs2281575
|
0.39893
|
NM_207352.4(CYP4V2):c.-152A>G
|
rs2241819
|
0.39682
|
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=)
|
rs4669
|
0.38557
|
NM_021615.5(CHST6):c.*4366T>C
|
rs37606
|
0.38416
|
NM_018699.4(PRDM5):c.744-38C>T
|
rs2136998
|
0.38181
|
NM_001174089.2(SLC4A11):c.88+189G>A
|
rs4142381
|
0.37902
|
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=)
|
rs8766
|
0.37317
|
NM_024915.4(GRHL2):c.*41G>A
|
rs3735713
|
0.37317
|
NM_024915.4(GRHL2):c.1764-19C>T
|
rs10093032
|
0.37291
|
NM_207352.4(CYP4V2):c.802-7C>T
|
rs3817184
|
0.36293
|
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg)
|
rs12598474
|
0.36151
|
NM_000358.3(TGFBI):c.651G>C (p.Leu217=)
|
rs1442
|
0.36069
|
NM_012293.3(PXDN):c.200+35C>T
|
rs62116430
|
0.35690
|
NM_000358.3(TGFBI):c.981A>G (p.Val327=)
|
rs1054124
|
0.35276
|
NM_033004.4(NLRP1):c.464T>A (p.Leu155His)
|
rs12150220
|
0.33261
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
NM_014588.6(VSX1):c.546A>G (p.Ala182=)
|
rs12480307
|
0.29623
|
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)
|
rs11650915
|
0.28816
|
NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
|
rs343192
|
0.28756
|
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly)
|
rs17116350
|
0.28157
|
NM_000104.4(CYP1B1):c.-1-12C>T
|
rs2617266
|
0.28114
|
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=)
|
rs1133170
|
0.27861
|
NM_001174089.2(SLC4A11):c.89-8G>T
|
rs3803957
|
0.27831
|
NM_002353.3(TACSTD2):c.*637G>A
|
rs7333
|
0.26328
|
NM_012293.3(PXDN):c.2892C>T (p.Asn964=)
|
rs3811613
|
0.25189
|
NM_001367624.2(ZNF469):c.*8G>A
|
rs45504291
|
0.24166
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
NM_001174089.2(SLC4A11):c.730-31T>C
|
rs540847946
|
0.22407
|
NM_001174089.2(SLC4A11):c.730-29_730-28insC
|
rs147477986
|
0.22402
|
NM_001174089.2(SLC4A11):c.292-86G>C
|
rs6139040
|
0.20545
|
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=)
|
rs12499000
|
0.19996
|
NM_001174089.2(SLC4A11):c.88+201A>C
|
rs6037508
|
0.19777
|
NM_021615.5(CHST6):c.*2327C>T
|
rs185053
|
0.19705
|
NM_001174089.2(SLC4A11):c.730-29T>A
|
rs573322136
|
0.19676
|
NM_000104.4(CYP1B1):c.*2409A>T
|
rs162549
|
0.18874
|
NM_153427.2(PITX2):c.-1068C>T
|
rs62338989
|
0.17862
|
NM_001174089.2(SLC4A11):c.729+34G>A
|
rs3803955
|
0.17603
|
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=)
|
rs3803956
|
0.17522
|
NM_001174089.2(SLC4A11):c.2389-9C>T
|
rs41281858
|
0.17452
|
NM_013319.3(UBIAD1):c.*904T>C
|
rs3765906
|
0.16890
|
NM_001083962.2(TCF4):c.305-165C>T
|
rs17522826
|
0.15868
|
NM_014588.6(VSX1):c.627+23G>A
|
rs6138482
|
0.15837
|
NM_207352.4(CYP4V2):c.*2399C>T
|
rs56413992
|
0.15680
|
NM_033004.4(NLRP1):c.114G>C (p.Ser38=)
|
rs884367
|
0.15491
|
NM_021615.5(CHST6):c.*4086G>A
|
rs12918234
|
0.15036
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
NM_002353.3(TACSTD2):c.*202A>G
|
rs41313363
|
0.14784
|
NM_002353.3(TACSTD2):c.-54A>C
|
rs232835
|
0.14512
|
NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)
|
rs14008
|
0.14507
|
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)
|
rs999890
|
0.13441
|
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)
|
rs999891
|
0.13429
|
NM_002353.3(TACSTD2):c.*421A>G
|
rs9583
|
0.12260
|
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala)
|
rs35075952
|
0.12227
|
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=)
|
rs61472141
|
0.10977
|
NM_015040.4(PIKFYVE):c.*1262T>G
|
rs6725527
|
0.10055
|
NM_015040.4(PIKFYVE):c.*2173C>T
|
rs11538998
|
0.09994
|
NM_013319.3(UBIAD1):c.*1304C>T
|
rs17036631
|
0.09921
|
NM_001174089.2(SLC4A11):c.1283-11C>T
|
rs41281862
|
0.09711
|
NM_012293.3(PXDN):c.4074-40A>G
|
rs66753271
|
0.09593
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=)
|
rs41281860
|
0.09317
|
NM_012293.3(PXDN):c.3953-14T>C
|
rs7578605
|
0.09206
|
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=)
|
rs6084312
|
0.08722
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
NM_012293.3(PXDN):c.1568-19C>G
|
rs7588627
|
0.07897
|
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)
|
rs3736456
|
0.07854
|
NM_002353.3(TACSTD2):c.*48G>A
|
rs41311174
|
0.07841
|
NM_014588.6(VSX1):c.*453del
|
rs11478193
|
0.07828
|
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=)
|
rs10029149
|
0.07706
|
NM_207352.4(CYP4V2):c.*1148A>G
|
rs10011736
|
0.07494
|
NM_013319.3(UBIAD1):c.*1532C>T
|
rs77270119
|
0.07082
|
NM_198252.3(GSN):c.2115T>C (p.Phe705=)
|
rs9102
|
0.07073
|
NM_001174089.2(SLC4A11):c.*34C>T
|
rs6051657
|
0.06969
|
NM_000104.4(CYP1B1):c.729G>C (p.Val243=)
|
rs9341249
|
0.06879
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
NM_014588.6(VSX1):c.18G>T (p.Ser6=)
|
rs8123716
|
0.06535
|
NM_001174089.2(SLC4A11):c.2193-4G>A
|
rs10048856
|
0.06274
|
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val)
|
rs3812954
|
0.06060
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_013319.3(UBIAD1):c.-47T>G
|
rs72856992
|
0.05898
|
NM_198252.3(GSN):c.1694C>T (p.Thr565Met)
|
rs76463933
|
0.05893
|
NM_198252.3(GSN):c.1260C>T (p.Gly420=)
|
rs2304393
|
0.05790
|
NM_012293.3(PXDN):c.1946+6G>A
|
rs73178792
|
0.05765
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
NM_000325.6(PITX2):c.*454C>T
|
rs6533526
|
0.05143
|
NM_015040.4(PIKFYVE):c.*2281del
|
rs56993638
|
0.05007
|
NM_015040.4(PIKFYVE):c.*2185C>G
|
rs59149007
|
0.05003
|
NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp)
|
rs1062964
|
0.04957
|
NM_019040.5(ELP4):c.*3509A>G
|
rs542906080
|
0.04927
|
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=)
|
rs11932764
|
0.04735
|
NM_012293.3(PXDN):c.2661C>T (p.Ser887=)
|
rs1863134
|
0.04731
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=)
|
rs6752525
|
0.03782
|
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=)
|
rs12121124
|
0.03674
|
NM_000104.4(CYP1B1):c.*1871C>T
|
rs9341266
|
0.03671
|
NM_021615.5(CHST6):c.*955C>T
|
rs116535181
|
0.03535
|
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)
|
rs13020468
|
0.03491
|
NM_014588.6(VSX1):c.391C>A (p.Arg131Ser)
|
rs6050307
|
0.03467
|
NM_014588.6(VSX1):c.*496A>G
|
rs76499395
|
0.03452
|
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)
|
rs16840913
|
0.03433
|
NM_000358.3(TGFBI):c.*267C>A
|
rs17169782
|
0.03306
|
NM_198252.3(GSN):c.232G>A (p.Ala78Thr)
|
rs2230287
|
0.03231
|
NM_015040.4(PIKFYVE):c.-160A>G
|
rs34366347
|
0.03165
|
NM_015040.4(PIKFYVE):c.2191-15A>T
|
rs16840942
|
0.03144
|
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)
|
rs36031854
|
0.03133
|
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)
|
rs35066043
|
0.03133
|
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser)
|
rs77681311
|
0.02987
|
NM_021615.5(CHST6):c.*2288T>G
|
rs147960476
|
0.02929
|
NM_021615.5(CHST6):c.*3992T>C
|
rs8063344
|
0.02920
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_019040.5(ELP4):c.*2673_*2674del
|
rs141022497
|
0.02792
|
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)
|
rs34460295
|
0.02737
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_198252.3(GSN):c.29A>G (p.Lys10Arg)
|
rs115224458
|
0.02654
|
NM_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val)
|
rs114373153
|
0.02577
|
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
NM_013319.3(UBIAD1):c.*148A>G
|
rs11580061
|
0.02447
|
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=)
|
rs9341247
|
0.02411
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_002353.3(TACSTD2):c.*226C>A
|
rs80012655
|
0.02262
|
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=)
|
rs35151677
|
0.02232
|
NM_014588.6(VSX1):c.315C>A (p.Asp105Glu)
|
rs6115023
|
0.02185
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
NM_000358.3(TGFBI):c.1411-3C>T
|
rs11242308
|
0.02094
|
NM_001920.5(DCN):c.*51A>G
|
rs1803343
|
0.02082
|
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)
|
rs41305979
|
0.02061
|
NM_021615.5(CHST6):c.*3828A>T
|
rs56769615
|
0.02061
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
NM_013319.3(UBIAD1):c.*1060G>A
|
rs115210853
|
0.01873
|
NM_001920.5(DCN):c.282C>T (p.Thr94=)
|
rs3138221
|
0.01829
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
NM_001920.5(DCN):c.803C>T (p.Thr268Met)
|
rs3138268
|
0.01757
|
NM_021615.5(CHST6):c.*1426C>A
|
rs11861434
|
0.01725
|
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)
|
rs80194531
|
0.01629
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
NM_015040.4(PIKFYVE):c.*2247A>G
|
rs13391849
|
0.01573
|
NM_014588.6(VSX1):c.*745G>A
|
rs6050301
|
0.01546
|
NM_021615.5(CHST6):c.*2956G>A
|
rs11860278
|
0.01509
|
NM_013319.3(UBIAD1):c.*819G>A
|
rs75287995
|
0.01442
|
NM_012293.3(PXDN):c.1182T>C (p.Ser394=)
|
rs76057922
|
0.01411
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)
|
rs6723697
|
0.01353
|
NM_021615.5(CHST6):c.258A>C (p.Ala86=)
|
rs61740901
|
0.01353
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_000325.6(PITX2):c.*471G>A
|
rs75911264
|
0.01337
|
NM_021615.5(CHST6):c.*5441C>T
|
rs74742116
|
0.01333
|
NM_012293.3(PXDN):c.111G>C (p.Pro37=)
|
rs140134102
|
0.01330
|
NM_014588.6(VSX1):c.339C>T (p.Gly113=)
|
rs6037016
|
0.01324
|
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=)
|
rs61976956
|
0.01306
|
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)
|
rs58401704
|
0.01305
|
NM_153427.2(PITX2):c.-392G>T
|
rs113778706
|
0.01298
|
NM_198252.3(GSN):c.538A>G (p.Asn180Asp)
|
rs11550199
|
0.01287
|
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)
|
rs35784095
|
0.01266
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
NM_000325.6(PITX2):c.618T>G (p.Ser206=)
|
rs35946364
|
0.01175
|
NM_021615.5(CHST6):c.*377G>A
|
rs138647317
|
0.01173
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp)
|
rs79155191
|
0.01148
|
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=)
|
rs117149938
|
0.01130
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
NM_015040.4(PIKFYVE):c.*1978T>C
|
rs535013196
|
0.01071
|
NM_014588.6(VSX1):c.*200G>T
|
rs75590263
|
0.01070
|
NM_012293.3(PXDN):c.4321-16C>T
|
rs113997519
|
0.01052
|
NM_000358.3(TGFBI):c.*458G>A
|
rs7854
|
0.01047
|
NM_153427.3(PITX2):c.46+8C>G
|
rs199896960
|
0.01041
|
NM_021615.5(CHST6):c.120C>T (p.Arg40=)
|
rs61740904
|
0.01016
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
NM_013319.3(UBIAD1):c.-195G>A
|
rs114907127
|
0.00966
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_019040.5(ELP4):c.*3851C>T
|
rs141344418
|
0.00935
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
NM_002353.3(TACSTD2):c.-1C>A
|
rs232836
|
0.00863
|
NM_198252.3(GSN):c.1239A>G (p.Thr413=)
|
rs149375418
|
0.00861
|
NM_019040.5(ELP4):c.*3994C>A
|
rs79739975
|
0.00857
|
NM_021615.5(CHST6):c.768C>T (p.Ala256=)
|
rs146465655
|
0.00857
|
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=)
|
rs61731247
|
0.00844
|
NM_002353.3(TACSTD2):c.*166C>T
|
rs7355042
|
0.00815
|
NM_019040.5(ELP4):c.*3425C>T
|
rs3026399
|
0.00813
|
NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)
|
rs114000606
|
0.00811
|
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His)
|
rs79339739
|
0.00810
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)
|
rs61747868
|
0.00788
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
NM_015040.4(PIKFYVE):c.*1098A>G
|
rs147936107
|
0.00759
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=)
|
rs137930753
|
0.00731
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
0.00706
|
NM_019040.5(ELP4):c.*4172A>C
|
rs73477658
|
0.00701
|
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile)
|
rs61747875
|
0.00688
|
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=)
|
rs115076385
|
0.00686
|
NM_021615.5(CHST6):c.*5187T>G
|
rs28710075
|
0.00653
|
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val)
|
rs35920018
|
0.00652
|
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu)
|
rs73910815
|
0.00635
|
NM_021615.5(CHST6):c.*3621A>G
|
rs139900788
|
0.00630
|
NM_000358.3(TGFBI):c.816C>T (p.Asn272=)
|
rs34334509
|
0.00623
|
NM_021615.5(CHST6):c.*606G>A
|
rs117741124
|
0.00621
|
NM_021615.5(CHST6):c.465G>A (p.Arg155=)
|
rs141905571
|
0.00619
|
NM_021615.5(CHST6):c.294C>G (p.Ser98=)
|
rs118144424
|
0.00618
|
NM_012293.3(PXDN):c.1242G>A (p.Ala414=)
|
rs111448491
|
0.00609
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_001920.5(DCN):c.424A>G (p.Lys142Glu)
|
rs142752401
|
0.00605
|
NM_021615.5(CHST6):c.*2833T>G
|
rs149981556
|
0.00595
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_001920.5(DCN):c.703A>C (p.Arg235=)
|
rs3138264
|
0.00551
|
NM_015040.4(PIKFYVE):c.-134C>T
|
rs115543378
|
0.00541
|
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met)
|
rs79322931
|
0.00537
|
NM_015040.4(PIKFYVE):c.*1499T>G
|
rs41295956
|
0.00527
|
NM_198252.3(GSN):c.382G>A (p.Val128Met)
|
rs41305623
|
0.00507
|
NM_015040.4(PIKFYVE):c.*3324A>G
|
rs114476866
|
0.00500
|
NM_021615.5(CHST6):c.*991A>G
|
rs142368532
|
0.00492
|
NM_001920.5(DCN):c.917T>C (p.Val306Ala)
|
rs73358055
|
0.00491
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
NM_001920.5(DCN):c.33A>G (p.Ala11=)
|
rs141738168
|
0.00477
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met)
|
rs111494864
|
0.00468
|
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
NM_014588.6(VSX1):c.*104C>T
|
rs148709299
|
0.00467
|
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)
|
rs150598363
|
0.00461
|
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu)
|
rs147066927
|
0.00460
|
NM_001920.5(DCN):c.975G>A (p.Ser325=)
|
rs80123678
|
0.00454
|
NM_013319.3(UBIAD1):c.*1564C>T
|
rs111893018
|
0.00446
|
NM_013319.3(UBIAD1):c.*552G>A
|
rs111991610
|
0.00446
|
NM_013319.3(UBIAD1):c.*420C>T
|
rs112789142
|
0.00444
|
NM_198252.3(GSN):c.196+7C>T
|
rs146379508
|
0.00444
|
NM_015040.4(PIKFYVE):c.*78T>C
|
rs115754381
|
0.00425
|
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=)
|
rs192479136
|
0.00424
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
NM_014588.5(VSX1):c.-197G>A
|
rs116022495
|
0.00408
|
NM_012293.3(PXDN):c.1380G>A (p.Pro460=)
|
rs191647762
|
0.00406
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_012293.3(PXDN):c.1018+9C>T
|
rs182152963
|
0.00400
|
NM_012293.3(PXDN):c.1113G>A (p.Pro371=)
|
rs200996147
|
0.00399
|
NM_014588.6(VSX1):c.174G>T (p.Pro58=)
|
rs141241716
|
0.00398
|
NM_021615.5(CHST6):c.*4155C>T
|
rs114790233
|
0.00398
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_012293.3(PXDN):c.1680+19G>A
|
rs201018276
|
0.00382
|
NM_198252.3(GSN):c.1680C>T (p.Ser560=)
|
rs73660439
|
0.00379
|
NM_198252.3(GSN):c.664-4A>G
|
rs143590302
|
0.00376
|
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg)
|
rs114755302
|
0.00371
|
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=)
|
rs35944808
|
0.00370
|
NM_021615.5(CHST6):c.129G>A (p.Val43=)
|
rs112939575
|
0.00366
|
NM_021615.5(CHST6):c.*3465T>C
|
rs76471046
|
0.00364
|
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu)
|
rs9696578
|
0.00359
|
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)
|
rs116185403
|
0.00357
|
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg)
|
rs183437633
|
0.00340
|
NM_013319.3(UBIAD1):c.867C>T (p.Thr289=)
|
rs113307594
|
0.00340
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)
|
rs61752190
|
0.00305
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_198252.3(GSN):c.243C>T (p.Thr81=)
|
rs116956127
|
0.00302
|
NM_015040.4(PIKFYVE):c.173-11C>T
|
rs4675744
|
0.00299
|
NM_014588.6(VSX1):c.432C>G (p.Asp144Glu)
|
rs140122268
|
0.00286
|
NM_021615.5(CHST6):c.666C>T (p.Asn222=)
|
rs148529501
|
0.00284
|
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)
|
rs199519673
|
0.00279
|
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=)
|
rs189596398
|
0.00279
|
NM_012293.3(PXDN):c.1392C>T (p.Ile464=)
|
rs61749582
|
0.00278
|
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala)
|
rs139565761
|
0.00277
|
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)
|
rs61752191
|
0.00271
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_153427.2(PITX2):c.-362C>G
|
rs181197472
|
0.00251
|
NM_021615.5(CHST6):c.237C>T (p.Thr79=)
|
rs112148613
|
0.00247
|
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=)
|
rs114884145
|
0.00244
|
NM_019040.5(ELP4):c.*3713A>T
|
rs138881442
|
0.00236
|
NM_013319.3(UBIAD1):c.*467G>A
|
rs112285480
|
0.00235
|
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)
|
rs148994064
|
0.00234
|
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)
|
rs181887079
|
0.00232
|
NM_153427.2(PITX2):c.-1024G>A
|
rs181439547
|
0.00231
|
NM_153427.2(PITX2):c.-1111C>G
|
rs187210297
|
0.00231
|
NM_001920.5(DCN):c.212-6T>C
|
rs191218249
|
0.00230
|
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=)
|
rs149961653
|
0.00229
|
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)
|
rs146239645
|
0.00228
|
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)
|
rs532857190
|
0.00223
|
NM_012293.3(PXDN):c.1176G>T (p.Thr392=)
|
rs140056124
|
0.00223
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
NM_019040.5(ELP4):c.*5347T>C
|
rs117590302
|
0.00220
|
NM_021615.5(CHST6):c.*3750C>A
|
rs142693604
|
0.00220
|
NM_021615.5(CHST6):c.130C>T (p.Leu44=)
|
rs140675009
|
0.00219
|
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)
|
rs202188220
|
0.00214
|
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=)
|
rs367547260
|
0.00208
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=)
|
rs372463004
|
0.00204
|
NM_019040.5(ELP4):c.*4932G>A
|
rs181818313
|
0.00198
|
NM_019040.5(ELP4):c.*2040G>C
|
rs183115097
|
0.00194
|
NM_012293.3(PXDN):c.4207-6C>T
|
rs117207020
|
0.00190
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_012293.3(PXDN):c.488+8G>C
|
rs142878073
|
0.00184
|
NM_001368894.2(PAX6):c.1075-275A>C
|
rs3026392
|
0.00180
|
NM_014588.6(VSX1):c.*199G>A
|
rs145201675
|
0.00178
|
NM_153427.2(PITX2):c.-1335C>A
|
rs145638916
|
0.00177
|
NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys)
|
rs138443305
|
0.00176
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
NM_153427.2(PITX2):c.-793C>A
|
rs145044365
|
0.00165
|
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)
|
rs202132697
|
0.00162
|
NM_013319.3(UBIAD1):c.*18C>T
|
rs191663672
|
0.00162
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_013319.3(UBIAD1):c.*684C>A
|
rs375520410
|
0.00151
|
NM_019040.5(ELP4):c.*4974C>T
|
rs138035131
|
0.00148
|
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=)
|
rs533300920
|
0.00145
|
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)
|
rs146158348
|
0.00139
|
NM_015040.4(PIKFYVE):c.*1923A>G
|
rs151104146
|
0.00138
|
NM_000325.6(PITX2):c.819G>A (p.Pro273=)
|
rs148191851
|
0.00135
|
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)
|
rs140774753
|
0.00134
|
NM_015040.4(PIKFYVE):c.*2693A>G
|
rs564043919
|
0.00126
|
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)
|
rs61752185
|
0.00125
|
NM_019040.5(ELP4):c.*1302T>C
|
rs146579778
|
0.00120
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_012293.3(PXDN):c.648G>A (p.Ala216=)
|
rs183196973
|
0.00115
|
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=)
|
rs147851300
|
0.00114
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)
|
rs61752187
|
0.00108
|
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)
|
rs191234581
|
0.00106
|
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=)
|
rs376379111
|
0.00103
|
NM_198252.3(GSN):c.1225G>A (p.Val409Met)
|
rs140042418
|
0.00103
|
NM_021615.5(CHST6):c.993G>T (p.Gln331His)
|
rs140699573
|
0.00101
|
NM_012293.3(PXDN):c.2283C>T (p.Thr761=)
|
rs201654539
|
0.00098
|
NM_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
NM_012293.3(PXDN):c.531A>G (p.Thr177=)
|
rs577963506
|
0.00093
|
NM_012293.3(PXDN):c.2385G>A (p.Pro795=)
|
rs373265335
|
0.00091
|
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)
|
rs138885638
|
0.00088
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_021615.5(CHST6):c.828G>A (p.Leu276=)
|
rs140327212
|
0.00085
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)
|
rs146556775
|
0.00080
|
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)
|
rs145498570
|
0.00076
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_015040.4(PIKFYVE):c.2331+12T>A
|
rs188586992
|
0.00075
|
NM_012293.3(PXDN):c.969C>T (p.Ala323=)
|
rs61746899
|
0.00074
|
NM_014588.6(VSX1):c.628-4C>T
|
rs181156458
|
0.00073
|
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)
|
rs149763308
|
0.00068
|
NM_012293.3(PXDN):c.1656C>T (p.Pro552=)
|
rs200276592
|
0.00066
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_012293.3(PXDN):c.1347C>T (p.Thr449=)
|
rs184142208
|
0.00063
|
NM_198252.3(GSN):c.1663G>A (p.Val555Met)
|
rs151208452
|
0.00063
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr)
|
rs147554026
|
0.00058
|
NM_014588.6(VSX1):c.474C>G (p.Thr158=)
|
rs199995626
|
0.00057
|
NM_198252.3(GSN):c.1931C>T (p.Thr644Met)
|
rs144434647
|
0.00057
|
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr)
|
rs148555720
|
0.00056
|
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)
|
rs147976705
|
0.00054
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=)
|
rs144382074
|
0.00051
|
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr)
|
rs79173362
|
0.00051
|
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)
|
rs539550777
|
0.00049
|
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)
|
rs188498825
|
0.00049
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
NM_012293.3(PXDN):c.273G>A (p.Leu91=)
|
rs200915485
|
0.00048
|
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=)
|
rs75454260
|
0.00046
|
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)
|
rs142263208
|
0.00044
|
NM_012293.3(PXDN):c.921A>G (p.Thr307=)
|
rs117914830
|
0.00043
|
NM_198252.3(GSN):c.271C>T (p.Arg91Trp)
|
rs146956976
|
0.00041
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_018699.4(PRDM5):c.743+14G>A
|
rs185567213
|
0.00038
|
NM_012293.3(PXDN):c.270A>G (p.Thr90=)
|
rs147536472
|
0.00036
|
NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val)
|
rs140612649
|
0.00036
|
NM_014588.6(VSX1):c.81C>T (p.Arg27=)
|
rs566762847
|
0.00036
|
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)
|
rs61752188
|
0.00036
|
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=)
|
rs149005796
|
0.00036
|
NM_001368894.2(PAX6):c.978C>T (p.Gly326=)
|
rs115833025
|
0.00035
|
NM_013319.3(UBIAD1):c.837C>T (p.Cys279=)
|
rs201111281
|
0.00035
|
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg)
|
rs58750568
|
0.00033
|
NM_014588.6(VSX1):c.*744C>A
|
rs139744143
|
0.00032
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)
|
rs139991374
|
0.00031
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
NM_153427.2(PITX2):c.-1311G>T
|
rs192250966
|
0.00030
|
NM_014588.6(VSX1):c.528G>A (p.Leu176=)
|
rs143099682
|
0.00029
|
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln)
|
rs141510612
|
0.00029
|
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys)
|
rs748126365
|
0.00026
|
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)
|
rs273585623
|
0.00026
|
NM_015040.4(PIKFYVE):c.*2143G>C
|
rs184529823
|
0.00026
|
NM_198252.3(GSN):c.1563C>T (p.Ser521=)
|
rs140414249
|
0.00026
|
NM_198252.3(GSN):c.1098G>A (p.Val366=)
|
rs201325199
|
0.00025
|
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys)
|
rs139832048
|
0.00025
|
NM_014588.6(VSX1):c.497G>A (p.Arg166Gln)
|
rs150297220
|
0.00024
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys)
|
rs151054868
|
0.00021
|
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)
|
rs144573813
|
0.00021
|
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)
|
rs146673873
|
0.00021
|
NM_198252.3(GSN):c.-9-1967C>T
|
rs372837702
|
0.00020
|
NM_198252.3(GSN):c.1421G>A (p.Arg474His)
|
rs142828669
|
0.00019
|
NM_001920.5(DCN):c.529A>T (p.Ile177Phe)
|
rs201430261
|
0.00016
|
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)
|
rs144852646
|
0.00016
|
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)
|
rs137922460
|
0.00016
|
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly)
|
rs567372749
|
0.00016
|
NM_198252.3(GSN):c.754-11C>T
|
rs374057474
|
0.00016
|
NM_013319.3(UBIAD1):c.*1671G>A
|
rs544393884
|
0.00014
|
NM_198252.3(GSN):c.1191+4C>T
|
rs372713895
|
0.00014
|
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr)
|
rs186563338
|
0.00013
|
NM_198252.3(GSN):c.1170C>T (p.Asp390=)
|
rs147583697
|
0.00013
|
NM_001920.5(DCN):c.671C>T (p.Thr224Met)
|
rs144174426
|
0.00012
|
NM_014588.6(VSX1):c.717G>A (p.Gly239=)
|
rs141410824
|
0.00012
|
NM_153427.3(PITX2):c.-79G>A
|
rs535056127
|
0.00012
|
NM_198252.3(GSN):c.1782G>A (p.Leu594=)
|
rs139239940
|
0.00012
|
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)
|
rs78290542
|
0.00011
|
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)
|
rs148810695
|
0.00011
|
NM_015040.4(PIKFYVE):c.5434+12A>T
|
rs182134444
|
0.00011
|
NM_198252.3(GSN):c.2046G>A (p.Thr682=)
|
rs747385746
|
0.00011
|
NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser)
|
rs281865145
|
0.00010
|
NM_001920.5(DCN):c.*105G>A
|
rs191434778
|
0.00010
|
NM_001204398.1(PITX2):c.-11+12T>C
|
rs140614517
|
0.00009
|
NM_014588.6(VSX1):c.60C>T (p.Gly20=)
|
rs776758064
|
0.00009
|
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)
|
rs199542979
|
0.00009
|
NM_021615.5(CHST6):c.15C>T (p.Arg5=)
|
rs762744897
|
0.00009
|
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=)
|
rs936296523
|
0.00007
|
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)
|
rs145916346
|
0.00007
|
NM_198252.3(GSN):c.547C>T (p.Arg183Trp)
|
rs371175865
|
0.00007
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_198252.3(GSN):c.1191+14G>A
|
rs377308627
|
0.00006
|
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)
|
rs2289170
|
0.00005
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_198252.3(GSN):c.1423G>T (p.Val475Leu)
|
rs766945413
|
0.00005
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_013319.3(UBIAD1):c.370C>A (p.Arg124=)
|
rs748615089
|
0.00004
|
NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=)
|
rs377764711
|
0.00004
|
NM_014588.6(VSX1):c.628-13T>C
|
rs775616468
|
0.00004
|
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)
|
rs200015827
|
0.00003
|
NM_001368894.2(PAX6):c.959-7C>T
|
rs750093295
|
0.00003
|
NM_015040.4(PIKFYVE):c.*3100T>G
|
rs539067320
|
0.00003
|
NM_015040.4(PIKFYVE):c.1051-10G>T
|
rs769292195
|
0.00003
|
NM_015040.4(PIKFYVE):c.3719+14C>A
|
rs765598840
|
0.00003
|
NM_198252.3(GSN):c.1443C>T (p.Pro481=)
|
rs200156774
|
0.00003
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_015040.4(PIKFYVE):c.*2738A>G
|
rs553290241
|
0.00002
|
NM_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
0.00002
|
NM_001367624.2(ZNF469):c.10573G>A (p.Glu3525Lys)
|
rs273585628
|
0.00001
|
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys)
|
rs273585622
|
0.00001
|
NM_001368894.2(PAX6):c.243A>G (p.Arg81=)
|
rs771974160
|
0.00001
|
NM_015040.4(PIKFYVE):c.*1938G>C
|
rs140749141
|
0.00001
|
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)
|
rs566701537
|
0.00001
|
NM_015040.4(PIKFYVE):c.4811-9T>C
|
rs148173811
|
0.00001
|
NM_015040.4(PIKFYVE):c.4932-13A>C
|
rs186801100
|
0.00001
|
NM_021615.5(CHST6):c.*5465C>T
|
rs541989548
|
0.00001
|
NM_198252.3(GSN):c.1009C>T (p.Leu337=)
|
rs528161256
|
0.00001
|
NM_198252.3(GSN):c.163G>A (p.Gly55Arg)
|
rs556563870
|
0.00001
|
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr)
|
rs777767455
|
0.00001
|
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
|
|
|
NM_000104.4(CYP1B1):c.*210dup
|
rs4646431
|
|
NM_000104.4(CYP1B1):c.-97dup
|
rs11379588
|
|
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)
|
|
|
NM_000325.6(PITX2):c.*340A>G
|
rs551209662
|
|
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)
|
rs201628949
|
|
NM_000494.4(COL17A1):c.979+27T>A
|
rs805704
|
|
NM_001174089.2(SLC4A11):c.291+126G>A
|
rs6133022
|
|
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3]
|
rs6145934
|
|
NM_001367624.2(ZNF469):c.*618T>G
|
rs3859020
|
|
NM_001367624.2(ZNF469):c.*870del
|
rs35684712
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
|
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
|
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln)
|
rs141042464
|
|
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del)
|
rs113102840
|
|
NM_001367624.2(ZNF469):c.2643C>G (p.Ser881=)
|
rs273585635
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001367624.2(ZNF469):c.3320G>A (p.Arg1107Gln)
|
rs281865148
|
|
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)
|
rs568046708
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.4910G>C (p.Arg1637Pro)
|
rs273585621
|
|
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=)
|
rs201666199
|
|
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=)
|
rs548774131
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly)
|
rs1457868844
|
|
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del)
|
rs281865162
|
|
NM_001368894.2(PAX6):c.724+14del
|
rs772158967
|
|
NM_001920.5(DCN):c.*160C>T
|
rs7441
|
|
NM_001920.5(DCN):c.*377T>C
|
rs35379812
|
|
NM_002353.2(TACSTD2):c.-169G>A
|
rs61779294
|
|
NM_002353.3(TACSTD2):c.*565G>T
|
rs528472691
|
|
NM_005202.4(COL8A2):c.*12G>T
|
rs3738360
|
|
NM_012293.3(PXDN):c.1408+164T>C
|
rs890055
|
|
NM_012293.3(PXDN):c.2640C>G (p.Arg880=)
|
rs79442404
|
|
NM_012293.3(PXDN):c.272+18A>G
|
|
|
NM_012293.3(PXDN):c.2730A>C (p.Ile910=)
|
rs1863135
|
|
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
|
|
|
NM_012293.3(PXDN):c.2821G>A (p.Val941Met)
|
rs189824177
|
|
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=)
|
rs147695468
|
|
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=)
|
rs111450110
|
|
NM_012293.3(PXDN):c.4206+73G>C
|
rs6742039
|
|
NM_012293.3(PXDN):c.4206+81A>G
|
rs6729142
|
|
NM_013319.3(UBIAD1):c.*1817_*1820del
|
rs371474267
|
|
NM_013319.3(UBIAD1):c.*48A>G
|
rs368504935
|
|
NM_013319.3(UBIAD1):c.*969_*970insTTTG
|
rs3063961
|
|
NM_014588.5(VSX1):c.-274_-270GGGGT[2]
|
rs144366921
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
NM_014588.6(VSX1):c.612C>T (p.Pro204=)
|
rs200369946
|
|
NM_014588.6(VSX1):c.809-6dup
|
rs11427085
|
|
NM_015040.4(PIKFYVE):c.*210G>A
|
rs77542967
|
|
NM_015040.4(PIKFYVE):c.*2549G>A
|
rs16841092
|
|
NM_015040.4(PIKFYVE):c.*3102_*3104dup
|
rs10622340
|
|
NM_015040.4(PIKFYVE):c.*3304TGTAT[1]
|
rs71968755
|
|
NM_015040.4(PIKFYVE):c.2191-6A>T
|
rs758552809
|
|
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)
|
rs2363468
|
|
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)
|
rs147789704
|
|
NM_018699.4(PRDM5):c.1031-6dup
|
rs35363618
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_021220.4(OVOL2):c.511+7G>A
|
rs1571431
|
|
NM_021615.5(CHST6):c.*1047G>T
|
rs77687996
|
|
NM_021615.5(CHST6):c.*1058G>A
|
rs137868909
|
|
NM_021615.5(CHST6):c.*1375G>A
|
rs116020927
|
|
NM_021615.5(CHST6):c.*1892del
|
rs35225560
|
|
NM_021615.5(CHST6):c.*3223CT[1]
|
rs5817947
|
|
NM_021615.5(CHST6):c.*4605C>T
|
rs150105169
|
|
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly)
|
rs117435647
|
|
NM_153427.2(PITX2):c.-485C>G
|
rs2739200
|
|
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)
|
rs142034230
|
|
NM_198252.3(GSN):c.231C>A (p.Ala77=)
|
rs140734150
|
|
NM_207352.4(CYP4V2):c.*364T>G
|
rs7697077
|
|