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: rs1040124120
rs1040124120
2 1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs80338797
rs80338797
7 0.827 0.160 3 12584624 missense variant G/C;T snv 0.010 1.000 1 2018 2018