Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913368
rs121913368
BRAF
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.020 1.000 2 2012 2018
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs745382803
rs745382803
MITF
1 1.000 0.040 3 69965076 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs755753950
rs755753950
SGSM3
1 1.000 0.040 22 40405688 missense variant G/A snv 4.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1204056923
rs1204056923
TTN ; TTN-AS1
1 1.000 0.040 2 178590160 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1238066548
rs1238066548
MAP4K1 ; LOC105372397
1 1.000 0.040 19 38595699 missense variant G/A;T snv 0.700 0
dbSNP: rs1277219458
rs1277219458
PASK
1 1.000 0.040 2 241143002 missense variant C/T snv 0.700 0
dbSNP: rs1451501407
rs1451501407
GUCY2D
1 1.000 0.040 17 8006628 missense variant G/A snv 0.700 0
dbSNP: rs1458591077
rs1458591077
TTN ; TTN-AS1
1 1.000 0.040 2 178630352 missense variant C/T snv 0.700 0
dbSNP: rs1484691555
rs1484691555
PAK5
1 1.000 0.040 20 9539512 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs267599092
rs267599092
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.040 2 178779043 missense variant C/T snv 0.700 0
dbSNP: rs267600891
rs267600891
RPS6KA2
1 1.000 0.040 6 166469882 missense variant C/T snv 0.700 0
dbSNP: rs267601046
rs267601046
TTBK1 ; LOC105375064
1 1.000 0.040 6 43283303 missense variant C/T snv 0.700 0
dbSNP: rs267601191
rs267601191
EPHB4
1 1.000 0.040 7 100819817 missense variant G/A snv 0.700 0
dbSNP: rs267605306
rs267605306
PKN1
1 1.000 0.040 19 14446504 missense variant C/G;T snv 1.6E-05 0.700 0
dbSNP: rs369098292
rs369098292
TTN ; TTN-AS1
1 1.000 0.040 2 178572742 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs374713701
rs374713701
TTN ; TTN-AS1
1 1.000 0.040 2 178593660 missense variant C/A;T snv 4.0E-06; 8.1E-06 0.700 0
dbSNP: rs375422359
rs375422359
TTN ; TTN-AS1
1 1.000 0.040 2 178563634 missense variant C/T snv 2.4E-05 3.5E-05 0.700 0
dbSNP: rs55735910
rs55735910
PRKDC
1 1.000 0.040 8 47881444 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs564777385
rs564777385
TTN
1 1.000 0.040 2 178800635 missense variant C/G;T snv 3.6E-05 0.700 0
dbSNP: rs764005465
rs764005465
TTN ; TTN-AS1
1 1.000 0.040 2 178572808 missense variant C/T snv 8.1E-06 0.700 0
dbSNP: rs779173667
rs779173667
PDGFRA
1 1.000 0.040 4 54290418 missense variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs868224085
rs868224085
EPHA4
1 1.000 0.040 2 221482474 missense variant G/A snv 0.700 0
dbSNP: rs907102077
rs907102077
OGG1 ; CAMK1
1 1.000 0.040 3 9760752 missense variant G/A snv 0.700 0
dbSNP: rs750697353
rs750697353
RAF1
4 0.882 0.080 3 12608919 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2015 2015