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: rs780163791
rs780163791
2 0.925 0.160 6 135323294 stop gained G/A;C snv 4.0E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs863225135
rs863225135
3 0.882 0.240 6 135427244 missense variant T/C snv 1.4E-05 0.010 1.000 1 2018 2018