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: rs121909627
rs121909627
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.800 1.000 1 2000 2000
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs747976513
rs747976513
1 1.000 0.080 8 38418351 missense variant G/C snv 5.6E-05 4.2E-05 0.010 1.000 1 2017 2017