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: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
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: rs564777385
rs564777385
TTN
1 1.000 0.040 2 178800635 missense variant C/G;T snv 3.6E-05 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: rs267605306
rs267605306
PKN1
1 1.000 0.040 19 14446504 missense variant C/G;T snv 1.6E-05 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
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002
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: 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: 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: 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: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 91 2004 2020
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1484691555
rs1484691555
PAK5
1 1.000 0.040 20 9539512 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 91 2004 2020
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.090 1.000 9 2012 2018
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.030 1.000 3 2015 2016
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.030 1.000 3 2015 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.030 1.000 3 2015 2016
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.030 1.000 3 2015 2019
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: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2016 2016