NM_001378373.1(MBL2):c.*1135A>G
|
rs11595876
|
0.04693
|
NM_001378373.1(MBL2):c.*1711T>G
|
rs12254557
|
0.04213
|
NM_001378373.1(MBL2):c.408C>T (p.Asn136=)
|
rs35805975
|
0.02062
|
NM_001378373.1(MBL2):c.*865A>C
|
rs55714260
|
0.01839
|
NM_001378373.1(MBL2):c.*1134C>T
|
rs11003121
|
0.00880
|
NM_001378373.1(MBL2):c.*2702G>A
|
rs114932753
|
0.00736
|
NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn)
|
rs61735593
|
0.00658
|
NM_006610.4(MASP2):c.*189G>A
|
rs116311214
|
0.00581
|
NM_001378373.1(MBL2):c.*1694G>T
|
rs35327474
|
0.00547
|
NM_001378373.1(MBL2):c.*1136A>G
|
rs115639140
|
0.00540
|
NM_000063.6(C2):c.2200C>T (p.Arg734Cys)
|
rs4151648
|
0.00474
|
NM_001378373.1(MBL2):c.*2450A>T
|
rs56325023
|
0.00387
|
NM_000063.6(C2):c.443-4G>A
|
rs9332719
|
0.00380
|
NM_001378373.1(MBL2):c.*2727G>T
|
rs138449358
|
0.00372
|
NM_000361.3(THBD):c.*1469C>T
|
rs3176124
|
0.00363
|
NM_001378373.1(MBL2):c.*2207G>A
|
rs191761980
|
0.00290
|
NM_001378373.1(MBL2):c.*447G>C
|
rs374583038
|
0.00228
|
NM_001378373.1(MBL2):c.*1498C>T
|
rs56009657
|
0.00213
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
NM_172351.3(CD46):c.285T>C (p.Tyr95=)
|
rs112089594
|
0.00175
|
NM_001378373.1(MBL2):c.*1819T>C
|
rs774307463
|
0.00171
|
NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)
|
rs74754826
|
0.00140
|
NM_000064.4(C3):c.2067G>A (p.Glu689=)
|
rs147477257
|
0.00118
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_000063.6(C2):c.1414G>A (p.Ala472Thr)
|
rs142243595
|
0.00105
|
NM_001378373.1(MBL2):c.132C>T (p.Asn44=)
|
rs34120190
|
0.00087
|
NM_000064.4(C3):c.4767G>A (p.Lys1589=)
|
rs144589541
|
0.00083
|
NM_006610.4(MASP2):c.828C>G (p.Ile276Met)
|
rs149800848
|
0.00080
|
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)
|
rs143981111
|
0.00063
|
NM_001378373.1(MBL2):c.*1995del
|
rs751460283
|
0.00061
|
NM_006610.4(MASP2):c.383C>T (p.Thr128Met)
|
rs141145402
|
0.00061
|
NM_006610.4(MASP2):c.395C>T (p.Ala132Val)
|
rs144632025
|
0.00061
|
NM_000064.4(C3):c.1898A>G (p.Lys633Arg)
|
rs140655115
|
0.00058
|
NM_006610.4(MASP2):c.231C>T (p.Val77=)
|
rs140239262
|
0.00058
|
NM_001378373.1(MBL2):c.*2209T>C
|
rs747317698
|
0.00055
|
NM_006610.4(MASP2):c.*219C>T
|
rs775881603
|
0.00055
|
NM_000064.4(C3):c.26T>C (p.Leu9Pro)
|
rs138214338
|
0.00053
|
NM_000064.4(C3):c.1480-4C>A
|
rs200965763
|
0.00050
|
NM_172351.3(CD46):c.*1111C>G
|
rs193023975
|
0.00049
|
NM_000063.6(C2):c.1413C>T (p.Asn471=)
|
rs138221333
|
0.00041
|
NM_000064.4(C3):c.1855G>A (p.Val619Met)
|
rs146613648
|
0.00041
|
NM_000064.4(C3):c.-44C>T
|
rs773043245
|
0.00039
|
NM_001378373.1(MBL2):c.*675C>T
|
rs56213573
|
0.00038
|
NM_000186.3(CFH):c.-175T>C
|
rs762143457
|
0.00036
|
NM_000064.4(C3):c.4827C>T (p.Ser1609=)
|
rs150537373
|
0.00035
|
NM_000064.4(C3):c.4824C>T (p.Ser1608=)
|
rs139457470
|
0.00034
|
NM_000063.6(C2):c.1450A>G (p.Ile484Val)
|
rs145988012
|
0.00031
|
NM_000063.6(C2):c.929A>G (p.Asn310Ser)
|
rs144201432
|
0.00031
|
NM_000064.4(C3):c.2799G>A (p.Pro933=)
|
rs149209011
|
0.00031
|
NM_006610.4(MASP2):c.1314C>T (p.Ala438=)
|
rs199953319
|
0.00031
|
NM_000063.6(C2):c.73C>T (p.Pro25Ser)
|
rs200095096
|
0.00029
|
NM_000063.6(C2):c.749C>G (p.Ser250Cys)
|
rs150827255
|
0.00027
|
NM_000204.4(CFI):c.-171G>A
|
rs182477786
|
0.00026
|
NM_001378373.1(MBL2):c.-9-5C>G
|
rs184683428
|
0.00026
|
NM_001378373.1(MBL2):c.483T>C (p.Ser161=)
|
rs760332285
|
0.00026
|
NM_172351.3(CD46):c.276C>T (p.Asp92=)
|
rs148383499
|
0.00026
|
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
|
rs546519295
|
0.00025
|
NM_006610.4(MASP2):c.1213G>A (p.Val405Met)
|
rs61735594
|
0.00025
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000361.3(THBD):c.*1011C>A
|
rs534762196
|
0.00023
|
NM_000063.6(C2):c.2080-8T>C
|
rs201806170
|
0.00022
|
NM_001378373.1(MBL2):c.*1088C>T
|
rs56095345
|
0.00022
|
NM_000361.3(THBD):c.*338C>T
|
rs536637715
|
0.00021
|
NM_000063.6(C2):c.218C>T (p.Pro73Leu)
|
rs137902889
|
0.00020
|
NM_000064.4(C3):c.774-4G>A
|
rs368095422
|
0.00019
|
NM_006610.4(MASP2):c.234+6G>A
|
rs183487544
|
0.00019
|
NM_000063.6(C2):c.1130-11C>T
|
rs117576077
|
0.00017
|
NM_000063.6(C2):c.936C>G (p.Asn312Lys)
|
rs532091149
|
0.00017
|
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala)
|
rs147116781
|
0.00017
|
NM_000063.6(C2):c.*82C>T
|
rs747202032
|
0.00016
|
NM_000063.6(C2):c.1716G>C (p.Lys572Asn)
|
rs376278843
|
0.00016
|
NM_000064.4(C3):c.2157G>A (p.Ala719=)
|
rs143671993
|
0.00016
|
NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr)
|
rs185903926
|
0.00016
|
NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile)
|
rs202214079
|
0.00016
|
NM_000063.6(C2):c.1169A>C (p.Asp390Ala)
|
rs142088624
|
0.00014
|
NM_000063.6(C2):c.1613C>T (p.Ala538Val)
|
rs140194348
|
0.00014
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_006610.4(MASP2):c.*171A>C
|
rs183998926
|
0.00014
|
NM_000063.6(C2):c.1902+5G>A
|
rs201711512
|
0.00013
|
NM_172351.3(CD46):c.*1641A>G
|
rs886045843
|
0.00013
|
NM_172351.3(CD46):c.*517T>A
|
rs539666226
|
0.00013
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000064.4(C3):c.681C>T (p.Tyr227=)
|
rs756694755
|
0.00012
|
NM_000063.6(C2):c.1577A>G (p.Lys526Arg)
|
rs146054348
|
0.00011
|
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn)
|
rs139100972
|
0.00011
|
NM_000064.4(C3):c.4030-4C>T
|
rs372612816
|
0.00010
|
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
|
rs368774068
|
0.00010
|
NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro)
|
rs200749792
|
0.00010
|
NM_000063.6(C2):c.2253C>T (p.Pro751=)
|
rs771797450
|
0.00009
|
NM_000064.4(C3):c.2797-5C>T
|
rs369673832
|
0.00009
|
NM_000064.4(C3):c.3687C>T (p.Asn1229=)
|
rs201108539
|
0.00009
|
NM_000064.4(C3):c.4535G>A (p.Arg1512His)
|
rs142868256
|
0.00009
|
NM_000064.4(C3):c.835G>A (p.Glu279Lys)
|
rs146167974
|
0.00009
|
NM_000064.4(C3):c.928G>A (p.Gly310Arg)
|
rs139527231
|
0.00009
|
NM_000204.5(CFI):c.454G>A (p.Val152Met)
|
rs367677199
|
0.00009
|
NM_001378373.1(MBL2):c.*99T>G
|
rs553395892
|
0.00009
|
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser)
|
rs373677176
|
0.00009
|
NM_172351.3(CD46):c.*1614G>A
|
rs533116649
|
0.00009
|
NM_001378373.1(MBL2):c.*3G>T
|
rs371397104
|
0.00008
|
NM_172351.3(CD46):c.887C>T (p.Ala296Val)
|
rs753859532
|
0.00008
|
NM_000063.6(C2):c.1109C>T (p.Ala370Val)
|
rs777200072
|
0.00007
|
NM_000063.6(C2):c.980A>G (p.Asn327Ser)
|
rs766665783
|
0.00007
|
NM_000064.4(C3):c.1758G>A (p.Glu586=)
|
rs764201055
|
0.00007
|
NM_000064.4(C3):c.2207G>A (p.Arg736Gln)
|
rs578116271
|
0.00007
|
NM_000204.5(CFI):c.60C>T (p.Val20=)
|
rs776132010
|
0.00007
|
NM_001378373.1(MBL2):c.*2067C>T
|
rs542103508
|
0.00007
|
NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)
|
rs143562102
|
0.00007
|
NM_001378373.1(MBL2):c.303G>A (p.Pro101=)
|
rs55902142
|
0.00007
|
NM_000063.6(C2):c.*304A>G
|
rs72842444
|
0.00006
|
NM_000063.6(C2):c.1529G>A (p.Arg510His)
|
rs45476300
|
0.00006
|
NM_000063.6(C2):c.442+15T>G
|
rs776839411
|
0.00006
|
NM_000064.4(C3):c.1098A>G (p.Pro366=)
|
rs757883156
|
0.00006
|
NM_000064.4(C3):c.1119+10G>A
|
rs752328639
|
0.00006
|
NM_000064.4(C3):c.1164C>T (p.Pro388=)
|
rs769368306
|
0.00006
|
NM_000064.4(C3):c.2907C>T (p.Asp969=)
|
rs144672500
|
0.00006
|
NM_000064.4(C3):c.4095C>G (p.Val1365=)
|
rs527830114
|
0.00006
|
NM_000064.4(C3):c.4257G>A (p.Lys1419=)
|
rs768065757
|
0.00006
|
NM_000064.4(C3):c.763A>G (p.Ile255Val)
|
rs746486431
|
0.00006
|
NM_000204.5(CFI):c.148C>G (p.Pro50Ala)
|
rs144082872
|
0.00006
|
NM_001378373.1(MBL2):c.*1287C>T
|
rs551861672
|
0.00006
|
NM_172351.3(CD46):c.*968T>A
|
rs768037862
|
0.00006
|
NM_172351.3(CD46):c.574G>C (p.Asp192His)
|
rs368371683
|
0.00006
|
NM_000063.6(C2):c.*141C>T
|
rs1026987640
|
0.00005
|
NM_000063.6(C2):c.-36G>A
|
rs758966628
|
0.00005
|
NM_000063.6(C2):c.386G>A (p.Arg129His)
|
rs367996721
|
0.00005
|
NM_000064.4(C3):c.1119+14C>T
|
rs374368486
|
0.00005
|
NM_000064.4(C3):c.1470C>T (p.Tyr490=)
|
rs762635358
|
0.00005
|
NM_000064.4(C3):c.1819A>G (p.Lys607Glu)
|
rs140637006
|
0.00005
|
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)
|
rs769873702
|
0.00005
|
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp)
|
rs140928439
|
0.00005
|
NM_006610.4(MASP2):c.86G>A (p.Arg29His)
|
rs375887709
|
0.00005
|
NM_172351.3(CD46):c.*1665G>A
|
rs886045845
|
0.00005
|
NM_000063.6(C2):c.1981G>A (p.Asp661Asn)
|
rs374481091
|
0.00004
|
NM_000063.6(C2):c.245C>T (p.Ala82Val)
|
rs547881286
|
0.00004
|
NM_000064.4(C3):c.1508C>T (p.Ala503Val)
|
rs781417846
|
0.00004
|
NM_000064.4(C3):c.3024G>A (p.Ser1008=)
|
rs779366181
|
0.00004
|
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro)
|
rs750654763
|
0.00004
|
NM_000064.4(C3):c.4353C>G (p.Val1451=)
|
rs750821412
|
0.00004
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000204.5(CFI):c.57+9T>C
|
rs189973137
|
0.00004
|
NM_000204.5(CFI):c.950G>A (p.Arg317Gln)
|
rs751111134
|
0.00004
|
NM_000361.3(THBD):c.675C>T (p.Thr225=)
|
rs775568682
|
0.00004
|
NM_001378373.1(MBL2):c.*1452A>T
|
rs186828712
|
0.00004
|
NM_001710.6(CFB):c.274A>T (p.Thr92Ser)
|
rs369638886
|
0.00004
|
NM_006610.4(MASP2):c.1470T>G (p.His490Gln)
|
rs750359413
|
0.00004
|
NM_006610.4(MASP2):c.412+1G>A
|
rs781037969
|
0.00004
|
NM_172351.3(CD46):c.*52G>A
|
rs373138507
|
0.00004
|
NM_172351.3(CD46):c.-6C>T
|
rs886045836
|
0.00004
|
NM_172351.3(CD46):c.245G>A (p.Arg82Gln)
|
rs761000846
|
0.00004
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
NM_000063.6(C2):c.*286T>C
|
rs948285998
|
0.00003
|
NM_000064.4(C3):c.48C>A (p.His16Gln)
|
rs184455094
|
0.00003
|
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr)
|
rs200973120
|
0.00003
|
NM_000361.3(THBD):c.*230T>G
|
rs985689499
|
0.00003
|
NM_000361.3(THBD):c.331G>A (p.Val111Ile)
|
rs886056549
|
0.00003
|
NM_000361.3(THBD):c.716C>T (p.Ala239Val)
|
rs886056547
|
0.00003
|
NM_001378373.1(MBL2):c.*1569A>G
|
rs754268753
|
0.00003
|
NM_001378373.1(MBL2):c.*2457G>C
|
rs1263739066
|
0.00003
|
NM_001710.6(CFB):c.*16A>T
|
rs749158582
|
0.00003
|
NM_001710.6(CFB):c.-3G>A
|
rs755016493
|
0.00003
|
NM_001710.6(CFB):c.1227A>G (p.Leu409=)
|
rs761050063
|
0.00003
|
NM_001710.6(CFB):c.1593T>C (p.Asp531=)
|
rs886061296
|
0.00003
|
NM_001710.6(CFB):c.321C>T (p.His107=)
|
rs767428982
|
0.00003
|
NM_006610.4(MASP2):c.*212A>G
|
rs987591296
|
0.00003
|
NM_006610.4(MASP2):c.*311T>C
|
rs771262318
|
0.00003
|
NM_006610.4(MASP2):c.159C>T (p.Pro53=)
|
rs376802078
|
0.00003
|
NM_006610.4(MASP2):c.172C>T (p.Arg58Cys)
|
rs566630945
|
0.00003
|
NM_006610.4(MASP2):c.229G>A (p.Val77Ile)
|
rs376609308
|
0.00003
|
NM_007375.4(TARDBP):c.*2123T>C
|
rs1464055996
|
0.00003
|
NM_172351.3(CD46):c.*1265T>C
|
rs753496695
|
0.00003
|
NM_172351.3(CD46):c.*180T>C
|
rs886045840
|
0.00003
|
NM_172351.3(CD46):c.*614T>C
|
rs561506830
|
0.00003
|
NM_172351.3(CD46):c.1104C>T (p.Thr368=)
|
rs764242699
|
0.00003
|
NM_000064.4(C3):c.1303G>A (p.Glu435Lys)
|
rs774826179
|
0.00002
|
NM_000064.4(C3):c.1685C>T (p.Ser562Leu)
|
rs200541526
|
0.00002
|
NM_000064.4(C3):c.3411C>T (p.Asn1137=)
|
rs753019751
|
0.00002
|
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp)
|
rs1178318400
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000204.5(CFI):c.1429G>C (p.Asp477His)
|
rs754972981
|
0.00002
|
NM_000361.3(THBD):c.*1104A>C
|
rs926288174
|
0.00002
|
NM_000361.3(THBD):c.1528G>A (p.Val510Met)
|
rs555537779
|
0.00002
|
NM_001378373.1(MBL2):c.*1144A>G
|
rs886047046
|
0.00002
|
NM_001378373.1(MBL2):c.*7A>G
|
rs777309633
|
0.00002
|
NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser)
|
rs8191996
|
0.00002
|
NM_001710.6(CFB):c.1290C>T (p.Val430=)
|
rs201619743
|
0.00002
|
NM_006610.4(MASP2):c.446C>T (p.Ala149Val)
|
rs761179644
|
0.00002
|
NM_006610.4(MASP2):c.661T>C (p.Phe221Leu)
|
rs756947952
|
0.00002
|
NM_006610.4(MASP2):c.81C>T (p.Phe27=)
|
rs886045056
|
0.00002
|
NM_172351.3(CD46):c.*1211C>T
|
rs1248620643
|
0.00002
|
NM_172351.3(CD46):c.*672A>T
|
rs1430844015
|
0.00002
|
NM_172351.3(CD46):c.-127A>G
|
rs1023894625
|
0.00002
|
NM_000063.6(C2):c.1082C>T (p.Thr361Met)
|
rs61730574
|
0.00001
|
NM_000063.6(C2):c.283T>G (p.Phe95Val)
|
rs201023669
|
0.00001
|
NM_000063.6(C2):c.819C>T (p.Phe273=)
|
rs886360667
|
0.00001
|
NM_000064.4(C3):c.1042A>G (p.Ile348Val)
|
rs141737564
|
0.00001
|
NM_000064.4(C3):c.1296G>A (p.Ser432=)
|
rs760150621
|
0.00001
|
NM_000064.4(C3):c.1767C>T (p.His589=)
|
rs775843240
|
0.00001
|
NM_000064.4(C3):c.2403G>A (p.Thr801=)
|
rs886054654
|
0.00001
|
NM_000064.4(C3):c.2441-6G>A
|
rs752216964
|
0.00001
|
NM_000064.4(C3):c.2450T>A (p.Val817Glu)
|
rs886054653
|
0.00001
|
NM_000064.4(C3):c.2583+9C>T
|
rs372400121
|
0.00001
|
NM_000064.4(C3):c.2646C>T (p.His882=)
|
rs377316231
|
0.00001
|
NM_000064.4(C3):c.2793C>T (p.Val931=)
|
rs781226831
|
0.00001
|
NM_000064.4(C3):c.3970-15C>G
|
rs1233140401
|
0.00001
|
NM_000064.4(C3):c.3993A>G (p.Thr1331=)
|
rs202210310
|
0.00001
|
NM_000064.4(C3):c.4121-4C>T
|
rs747452882
|
0.00001
|
NM_000064.4(C3):c.443G>A (p.Arg148Gln)
|
rs886054657
|
0.00001
|
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)
|
rs746985605
|
0.00001
|
NM_000064.4(C3):c.4850+12C>A
|
rs748416799
|
0.00001
|
NM_000064.4(C3):c.4941G>A (p.Gln1647=)
|
rs780251209
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000204.5(CFI):c.1112G>T (p.Gly371Val)
|
rs763931500
|
0.00001
|
NM_000204.5(CFI):c.1429+5A>G
|
rs771786368
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000204.5(CFI):c.209A>C (p.Asn70Thr)
|
rs749553820
|
0.00001
|
NM_000204.5(CFI):c.424A>C (p.Lys142Gln)
|
rs762431670
|
0.00001
|
NM_000204.5(CFI):c.781G>A (p.Gly261Ser)
|
rs547901965
|
0.00001
|
NM_000361.3(THBD):c.*1315C>T
|
rs886056541
|
0.00001
|
NM_000361.3(THBD):c.*1505C>G
|
rs1439185320
|
0.00001
|
NM_000361.3(THBD):c.*1689C>T
|
rs886056540
|
0.00001
|
NM_000361.3(THBD):c.*169G>A
|
rs543317002
|
0.00001
|
NM_000361.3(THBD):c.*509C>T
|
rs1189083158
|
0.00001
|
NM_000361.3(THBD):c.-38G>A
|
rs750724405
|
0.00001
|
NM_000361.3(THBD):c.72G>A (p.Gln24=)
|
rs1185401752
|
0.00001
|
NM_001378373.1(MBL2):c.*1213C>T
|
rs1840313554
|
0.00001
|
NM_001378373.1(MBL2):c.*1448C>T
|
rs1403377181
|
0.00001
|
NM_001378373.1(MBL2):c.*1839A>G
|
rs1203114895
|
0.00001
|
NM_001378373.1(MBL2):c.*289C>T
|
rs886047050
|
0.00001
|
NM_001378373.1(MBL2):c.*674A>G
|
rs886047049
|
0.00001
|
NM_001378373.1(MBL2):c.*708G>A
|
rs558872633
|
0.00001
|
NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser)
|
rs201511397
|
0.00001
|
NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser)
|
rs1342494768
|
0.00001
|
NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu)
|
rs886047052
|
0.00001
|
NM_001378373.1(MBL2):c.249G>T (p.Gly83=)
|
rs757152192
|
0.00001
|
NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro)
|
rs1049360705
|
0.00001
|
NM_001378373.1(MBL2):c.656A>T (p.Asp219Val)
|
rs780449116
|
0.00001
|
NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys)
|
rs776003487
|
0.00001
|
NM_001710.6(CFB):c.1762T>C (p.Tyr588His)
|
rs1364257553
|
0.00001
|
NM_001710.6(CFB):c.917A>G (p.Lys306Arg)
|
rs374738591
|
0.00001
|
NM_006610.4(MASP2):c.1080G>A (p.Ala360=)
|
rs774776055
|
0.00001
|
NM_006610.4(MASP2):c.154C>T (p.Pro52Ser)
|
rs570974459
|
0.00001
|
NM_006610.4(MASP2):c.1972A>G (p.Met658Val)
|
rs1643743988
|
0.00001
|
NM_006610.4(MASP2):c.384G>A (p.Thr128=)
|
rs187107024
|
0.00001
|
NM_006610.4(MASP2):c.420C>T (p.Asp140=)
|
rs760062530
|
0.00001
|
NM_006610.4(MASP2):c.507A>G (p.Ala169=)
|
rs201972294
|
0.00001
|
NM_006610.4(MASP2):c.626C>T (p.Ser209Phe)
|
rs748760302
|
0.00001
|
NM_006610.4(MASP2):c.967A>C (p.Ser323Arg)
|
rs771074354
|
0.00001
|
NM_172351.3(CD46):c.*1146G>C
|
rs914566029
|
0.00001
|
NM_172351.3(CD46):c.*1613C>T
|
rs908893859
|
0.00001
|
NM_172351.3(CD46):c.*1888C>T
|
rs886045846
|
0.00001
|
NM_172351.3(CD46):c.*1963C>T
|
rs886045847
|
0.00001
|
NM_172351.3(CD46):c.*920A>G
|
rs886045841
|
0.00001
|
NM_172351.3(CD46):c.-10C>T
|
rs931567100
|
0.00001
|
NM_172351.3(CD46):c.1018+7A>G
|
rs771467005
|
0.00001
|
NM_172351.3(CD46):c.118A>G (p.Thr40Ala)
|
rs753924720
|
0.00001
|
NM_172351.3(CD46):c.586G>C (p.Gly196Arg)
|
rs1656188708
|
0.00001
|
NM_172351.3(CD46):c.857-185T>C
|
rs376519984
|
0.00001
|
NM_172351.3(CD46):c.860C>T (p.Ser287Leu)
|
rs751860518
|
0.00001
|
NM_172351.3(CD46):c.901+9A>G
|
rs370112627
|
0.00001
|
NM_000063.5(C2):c.-37C>A
|
rs776263411
|
|
NM_000063.6(C2):c.*120T>C
|
rs886061294
|
|
NM_000063.6(C2):c.*183C>T
|
rs567255004
|
|
NM_000063.6(C2):c.-21G>A
|
rs764589447
|
|
NM_000063.6(C2):c.1066C>T (p.Leu356Phe)
|
rs886061293
|
|
NM_000063.6(C2):c.109C>T (p.Leu37Phe)
|
rs1310333522
|
|
NM_000063.6(C2):c.1239G>C (p.Val413=)
|
rs751253087
|
|
NM_000063.6(C2):c.149C>T (p.Ser50Phe)
|
rs1277611780
|
|
NM_000063.6(C2):c.1602T>C (p.Leu534=)
|
rs767886405
|
|
NM_000063.6(C2):c.2201G>T (p.Arg734Leu)
|
rs146067615
|
|
NM_000063.6(C2):c.313G>A (p.Gly105Arg)
|
rs886061292
|
|
NM_000063.6(C2):c.337G>A (p.Val113Met)
|
rs1769482101
|
|
NM_000063.6(C2):c.81C>T (p.Asn27=)
|
rs201336507
|
|
NM_000063.6(C2):c.913C>T (p.Leu305Phe)
|
rs1562601398
|
|
NM_000064.3(C3):c.-75A>C
|
rs1316357912
|
|
NM_000064.4(C3):c.1269+14C>A
|
rs886054655
|
|
NM_000064.4(C3):c.1686+10C>T
|
rs776885748
|
|
NM_000064.4(C3):c.1725T>C (p.Pro575=)
|
rs1967865144
|
|
NM_000064.4(C3):c.2390A>C (p.Asp797Ala)
|
rs1967690681
|
|
NM_000064.4(C3):c.2429C>T (p.Ser810Leu)
|
rs781280055
|
|
NM_000064.4(C3):c.2584G>T (p.Val862Leu)
|
rs1967565745
|
|
NM_000064.4(C3):c.2617T>C (p.Cys873Arg)
|
rs1967565177
|
|
NM_000064.4(C3):c.267+9A>G
|
rs762058420
|
|
NM_000064.4(C3):c.2670C>G (p.Pro890=)
|
rs137956083
|
|
NM_000064.4(C3):c.2700C>G (p.Ile900Met)
|
rs763155610
|
|
NM_000064.4(C3):c.2857G>A (p.Gly953Ser)
|
rs779124363
|
|
NM_000064.4(C3):c.2863+15G>T
|
rs759976981
|
|
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
|
rs1918144043
|
|
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
|
rs1918019867
|
|
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser)
|
rs1918001974
|
|
NM_000064.4(C3):c.4120+8G>T
|
rs886054652
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.4645C>T (p.Leu1549=)
|
rs149202905
|
|
NM_000064.4(C3):c.819C>T (p.Phe273=)
|
rs886054656
|
|
NM_000186.4(CFH):c.*127G>T
|
rs369221006
|
|
NM_000186.4(CFH):c.-61A>G
|
rs886045741
|
|
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)
|
rs886045742
|
|
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)
|
rs886045743
|
|
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
|
rs1212658402
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.428-3C>T
|
rs886045744
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000204.4(CFI):c.-98T>C
|
rs886058984
|
|
NM_000204.5(CFI):c.1044+9G>A
|
rs568070697
|
|
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu)
|
rs886058983
|
|
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln)
|
rs886058982
|
|
NM_000204.5(CFI):c.373G>C (p.Gly125Arg)
|
rs910978973
|
|
NM_000204.5(CFI):c.91A>C (p.Lys31Gln)
|
rs140888912
|
|
NM_000361.3(THBD):c.*1153A>G
|
rs886056542
|
|
NM_000361.3(THBD):c.*1519G>C
|
rs1984567640
|
|
NM_000361.3(THBD):c.*1845G>T
|
rs867940213
|
|
NM_000361.3(THBD):c.*1869G>A
|
rs886056539
|
|
NM_000361.3(THBD):c.*1G>T
|
rs1984610334
|
|
NM_000361.3(THBD):c.*27C>T
|
rs530087674
|
|
NM_000361.3(THBD):c.*508dup
|
rs373979588
|
|
NM_000361.3(THBD):c.*562G>C
|
rs886056544
|
|
NM_000361.3(THBD):c.*663C>T
|
rs886056543
|
|
NM_000361.3(THBD):c.*775G>C
|
rs539785413
|
|
NM_000361.3(THBD):c.*943dup
|
rs759004623
|
|
NM_000361.3(THBD):c.1205A>G (p.His402Arg)
|
rs1984634547
|
|
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)
|
rs1984617316
|
|
NM_000361.3(THBD):c.1674C>G (p.Ser558=)
|
rs1984613257
|
|
NM_000361.3(THBD):c.656G>T (p.Gly219Val)
|
rs886056548
|
|
NM_000361.3(THBD):c.747C>G (p.Asn249Lys)
|
rs886056546
|
|
NM_000361.3(THBD):c.885C>T (p.Phe295=)
|
rs1568666169
|
|
NM_000361.3(THBD):c.897C>T (p.Asn299=)
|
rs1008621697
|
|
NM_001378373.1(MBL2):c.*1252A>C
|
rs1840312785
|
|
NM_001378373.1(MBL2):c.*1429A>C
|
rs577771508
|
|
NM_001378373.1(MBL2):c.*1568C>T
|
rs886047045
|
|
NM_001378373.1(MBL2):c.*1695G>T
|
rs35768126
|
|
NM_001378373.1(MBL2):c.*1743T>C
|
rs529374068
|
|
NM_001378373.1(MBL2):c.*2032C>T
|
rs977172176
|
|
NM_001378373.1(MBL2):c.*2033G>A
|
rs544901610
|
|
NM_001378373.1(MBL2):c.*2066G>T
|
rs886047044
|
|
NM_001378373.1(MBL2):c.*2129T>C
|
rs1382426241
|
|
NM_001378373.1(MBL2):c.*2470A>C
|
rs886047043
|
|
NM_001378373.1(MBL2):c.*2477C>T
|
rs55855374
|
|
NM_001378373.1(MBL2):c.*2648C>A
|
rs183826308
|
|
NM_001378373.1(MBL2):c.*2751A>C
|
rs758996436
|
|
NM_001378373.1(MBL2):c.*282A>G
|
rs886047051
|
|
NM_001378373.1(MBL2):c.*324C>T
|
rs551192639
|
|
NM_001378373.1(MBL2):c.*366G>A
|
rs1840327961
|
|
NM_001378373.1(MBL2):c.*783C>T
|
rs567802378
|
|
NM_001378373.1(MBL2):c.*937A>G
|
rs886047048
|
|
NM_001378373.1(MBL2):c.*953T>C
|
rs886047047
|
|
NM_001378373.1(MBL2):c.*966A>G
|
rs1336069649
|
|
NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala)
|
rs886047053
|
|
NM_001378373.1(MBL2):c.187+9T>C
|
rs1840389903
|
|
NM_001378373.1(MBL2):c.549C>T (p.Phe183=)
|
rs1840337967
|
|
NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys)
|
rs756763361
|
|
NM_001378373.1(MBL2):c.99T>G (p.Pro33=)
|
rs1840392728
|
|
NM_001710.5(CFB):c.-199T>C
|
rs1771399314
|
|
NM_001710.6(CFB):c.1524C>A (p.His508Gln)
|
rs138207668
|
|
NM_001710.6(CFB):c.1803G>A (p.Glu601=)
|
rs377025675
|
|
NM_001710.6(CFB):c.1889C>T (p.Ala630Val)
|
rs886061297
|
|
NM_001710.6(CFB):c.2069C>T (p.Ala690Val)
|
rs1403720810
|
|
NM_001710.6(CFB):c.334G>C (p.Gly112Arg)
|
rs950175817
|
|
NM_001710.6(CFB):c.656A>T (p.Gln219Leu)
|
rs886061295
|
|
NM_006610.4(MASP2):c.*111C>T
|
rs886045052
|
|
NM_006610.4(MASP2):c.*220A>G
|
rs1643737115
|
|
NM_006610.4(MASP2):c.*282C>A
|
rs375230404
|
|
NM_006610.4(MASP2):c.*64C>T
|
rs1011130298
|
|
NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp)
|
rs1643830509
|
|
NM_006610.4(MASP2):c.1231G>A (p.Val411Met)
|
rs367583731
|
|
NM_006610.4(MASP2):c.1468C>T (p.His490Tyr)
|
rs1643757459
|
|
NM_006610.4(MASP2):c.1590C>T (p.Asp530=)
|
rs886045053
|
|
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser)
|
rs1236065829
|
|
NM_006610.4(MASP2):c.223G>A (p.Asp75Asn)
|
rs759383807
|
|
NM_006610.4(MASP2):c.242C>A (p.Ser81Ter)
|
rs148831269
|
|
NM_006610.4(MASP2):c.277G>C (p.Glu93Gln)
|
rs747767865
|
|
NM_006610.4(MASP2):c.437C>T (p.Pro146Leu)
|
rs1411989082
|
|
NM_006610.4(MASP2):c.612G>T (p.Pro204=)
|
rs72550853
|
|
NM_006610.4(MASP2):c.808A>C (p.Lys270Gln)
|
rs886045054
|
|
NM_006610.4(MASP2):c.93A>T (p.Ala31=)
|
rs886045055
|
|
NM_172351.3(CD46):c.*1099A>G
|
rs886045842
|
|
NM_172351.3(CD46):c.*1272C>T
|
rs1660101231
|
|
NM_172351.3(CD46):c.*1418T>C
|
rs1660116649
|
|
NM_172351.3(CD46):c.*1659A>G
|
rs886045844
|
|
NM_172351.3(CD46):c.*1865G>C
|
rs1660164008
|
|
NM_172351.3(CD46):c.*31A>G
|
rs886045839
|
|
NM_172351.3(CD46):c.*467T>C
|
rs953478028
|
|
NM_172351.3(CD46):c.*518A>G
|
rs867789788
|
|
NM_172351.3(CD46):c.1082+13A>T
|
rs1175018634
|
|
NM_172351.3(CD46):c.1090C>T (p.Leu364=)
|
rs1483201583
|
|
NM_172351.3(CD46):c.857-124T>A
|
rs886045837
|
|
NM_172351.3(CD46):c.949C>G (p.Pro317Ala)
|
rs886045838
|
|