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: rs17408553
rs17408553
2 0.925 0.080 6 31271630 missense variant G/A;T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2308557
rs2308557
1 1.000 0.080 6 31271640 missense variant C/A;G;T snv 0.37 0.010 1.000 1 2016 2016