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: rs57499817
rs57499817
6 0.807 0.160 12 52520223 missense variant G/A snv 0.850 1.000 8 1996 2011
dbSNP: rs58072617
rs58072617
7 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
dbSNP: rs1299888635
rs1299888635
1 1.000 0.080 17 41586764 missense variant A/G snv 0.010 1.000 1 1999 1999