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: rs63750687
rs63750687
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1114167453
rs1114167453
4 1.000 19 45385569 stop gained G/C snv 0.700 0
dbSNP: rs1131692034
rs1131692034
EDA
14 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
dbSNP: rs1218912272
rs1218912272
8 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1553284997
rs1553284997
17 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1554317931
rs1554317931
11 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs886039469
rs886039469
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2016 2016