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: rs1131690985
rs1131690985
3 0.925 0.200 9 95449891 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121908345
rs121908345
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1364050643
rs1364050643
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs199476095
rs199476095
2 0.925 0.200 16 2089957 stop gained G/A;C snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs754868200
rs754868200
2 0.925 0.200 4 88052022 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012