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: rs17860424
rs17860424
1 1.000 0.120 2 201276908 missense variant C/T snv 1.2E-05 7.0E-06 0.800 0
dbSNP: rs72645347
rs72645347
10 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2017 2017