NM_152416.4(NDUFAF6):c.*16T>C
|
rs2678832
|
0.91103
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.55793
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_003052.5(SLC34A1):c.774T>C (p.His258=)
|
rs5030873
|
0.24542
|
NM_003052.5(SLC34A1):c.389-20C>T
|
rs3812036
|
0.19698
|
NM_003052.5(SLC34A1):c.389-5C>T
|
rs189794265
|
0.01364
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
|
rs148976897
|
0.00298
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)
|
rs201223057
|
0.00210
|
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)
|
rs193102273
|
0.00182
|
NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu)
|
rs142339349
|
0.00147
|
NM_003052.5(SLC34A1):c.260-4C>A
|
rs200580283
|
0.00109
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala)
|
rs201109695
|
0.00051
|
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)
|
rs137909349
|
0.00050
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)
|
rs140461295
|
0.00036
|
NM_001482.3(GATM):c.484+19C>T
|
rs374556262
|
0.00026
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)
|
rs376131751
|
0.00018
|
NM_001482.3(GATM):c.160G>A (p.Asp54Asn)
|
rs780777061
|
0.00017
|
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
|
rs34044544
|
0.00016
|
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro)
|
rs201728701
|
0.00013
|
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=)
|
rs374121143
|
0.00013
|
NM_001482.3(GATM):c.801A>C (p.Ala267=)
|
rs371507418
|
0.00012
|
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)
|
rs148575220
|
0.00012
|
NM_001482.3(GATM):c.-1G>A
|
rs778453861
|
0.00010
|
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)
|
rs768939354
|
0.00010
|
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=)
|
rs552176812
|
0.00009
|
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val)
|
rs141770901
|
0.00009
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp)
|
rs146096892
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)
|
rs387907503
|
0.00006
|
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)
|
rs200188041
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=)
|
rs137867155
|
0.00005
|
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr)
|
rs199847351
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_001482.3(GATM):c.1106G>A (p.Arg369His)
|
rs747557239
|
0.00004
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
NM_001482.3(GATM):c.338A>G (p.His113Arg)
|
rs910754475
|
0.00004
|
NM_001482.3(GATM):c.979-19G>T
|
rs575171738
|
0.00004
|
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer)
|
rs771955031
|
0.00004
|
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=)
|
rs377213972
|
0.00004
|
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile)
|
rs146812061
|
0.00004
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
NM_152416.4(NDUFAF6):c.298-768T>C
|
rs575462405
|
0.00004
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
NM_001482.3(GATM):c.279C>G (p.Ile93Met)
|
rs192378417
|
0.00003
|
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)
|
rs767269039
|
0.00003
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_001482.3(GATM):c.494G>A (p.Ser165Asn)
|
rs780398292
|
0.00002
|
NM_001482.3(GATM):c.813+6C>T
|
rs771050735
|
0.00002
|
NM_001482.3(GATM):c.845G>A (p.Arg282His)
|
rs371447931
|
0.00002
|
NM_001482.3(GATM):c.859C>T (p.Pro287Ser)
|
rs773358289
|
0.00002
|
NM_003052.5(SLC34A1):c.1175-13G>A
|
rs548223568
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_001482.3(GATM):c.104C>A (p.Thr35Asn)
|
rs1331986925
|
0.00001
|
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)
|
rs768171759
|
0.00001
|
NM_001482.3(GATM):c.1257G>A (p.Gln419=)
|
rs774881489
|
0.00001
|
NM_001482.3(GATM):c.138C>T (p.Ser46=)
|
rs1012951622
|
0.00001
|
NM_001482.3(GATM):c.294C>T (p.Asn98=)
|
rs1271594468
|
0.00001
|
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951
|
0.00001
|
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)
|
rs397514708
|
0.00001
|
NM_001482.3(GATM):c.540C>T (p.Ile180=)
|
rs758473036
|
0.00001
|
NM_001482.3(GATM):c.565C>T (p.Arg189Cys)
|
rs377578020
|
0.00001
|
NM_001482.3(GATM):c.603A>C (p.Lys201Asn)
|
rs748600834
|
0.00001
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
NM_001482.3(GATM):c.625A>G (p.Lys209Glu)
|
rs1393968087
|
0.00001
|
NM_001482.3(GATM):c.710A>G (p.Lys237Arg)
|
rs764877849
|
0.00001
|
NM_001482.3(GATM):c.76C>G (p.Arg26Gly)
|
rs1032267288
|
0.00001
|
NM_001482.3(GATM):c.875A>G (p.His292Arg)
|
rs747005297
|
0.00001
|
NM_001482.3(GATM):c.88G>A (p.Gly30Arg)
|
rs1245821498
|
0.00001
|
NM_001482.3(GATM):c.911T>C (p.Ile304Thr)
|
rs1334969328
|
0.00001
|
NM_001482.3(GATM):c.9G>A (p.Arg3=)
|
rs1471775361
|
0.00001
|
NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala)
|
rs762656795
|
0.00001
|
NM_001966.4(EHHADH):c.734A>G (p.Tyr245Cys)
|
rs1357636145
|
0.00001
|
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His)
|
rs750711955
|
0.00001
|
NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg)
|
rs770557903
|
0.00001
|
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr)
|
rs184668287
|
0.00001
|
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys)
|
rs756685605
|
0.00001
|
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile)
|
rs758639329
|
0.00001
|
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro)
|
rs142772770
|
0.00001
|
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=)
|
rs753903046
|
0.00001
|
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)
|
rs1426432774
|
0.00001
|
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met)
|
rs778803636
|
0.00001
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
|
|
|
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
|
|
|
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)
|
rs1889422994
|
|
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)
|
rs1481334244
|
|
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)
|
rs1889422661
|
|
NM_001482.3(GATM):c.1042+4T>C
|
rs1191624574
|
|
NM_001482.3(GATM):c.1159+19A>G
|
rs187979088
|
|
NM_001482.3(GATM):c.139C>G (p.Arg47Gly)
|
|
|
NM_001482.3(GATM):c.259T>C (p.Cys87Arg)
|
rs2140657166
|
|
NM_001482.3(GATM):c.576G>A (p.Glu192=)
|
rs759135975
|
|
NM_001482.3(GATM):c.684C>T (p.Pro228=)
|
rs1251849022
|
|
NM_001482.3(GATM):c.752C>T (p.Pro251Leu)
|
rs1424827158
|
|
NM_001482.3(GATM):c.814-17C>G
|
rs368314780
|
|
NM_001482.3(GATM):c.930C>T (p.Ile310=)
|
rs2140641456
|
|
NM_001482.3(GATM):c.941G>A (p.Gly314Asp)
|
|
|
NM_001482.3(GATM):c.958C>T (p.Pro320Ser)
|
rs1889443535
|
|
NM_001482.3(GATM):c.965G>C (p.Arg322Pro)
|
rs1325460408
|
|
NM_001482.3(GATM):c.979-18dup
|
rs202176047
|
|
NM_001966.4(EHHADH):c.1189dup (p.Ser397fs)
|
|
|
NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)
|
rs1553775828
|
|
NM_001966.4(EHHADH):c.1984G>A (p.Gly662Arg)
|
|
|
NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp)
|
|
|
NM_001966.4(EHHADH):c.42C>G (p.Ile14Met)
|
|
|
NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys)
|
rs398124646
|
|
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=)
|
rs73336286
|
|
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=)
|
rs1581648732
|
|
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=)
|
rs145542852
|
|
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met)
|
rs765774780
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del)
|
rs758233945
|
|
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)
|
rs769409705
|
|
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup)
|
rs1554095263
|
|
NM_003052.5(SLC34A1):c.504dup (p.Ile169fs)
|
|
|
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)
|
rs370983881
|
|
NM_003052.5(SLC34A1):c.690dup (p.Val231fs)
|
|
|
NM_003052.5(SLC34A1):c.909G>C (p.Gln303His)
|
rs768061577
|
|
NM_152416.4(NDUFAF6):c.420+15dup
|
rs34960210
|
|
NM_152416.4(NDUFAF6):c.421-13_421-12del
|
rs79118993
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
|
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)
|
rs1229650809
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)
|
rs1775879070
|
|
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser)
|
rs2146437968
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
|
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|