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: rs1251696640
rs1251696640
2 0.925 0.120 2 70212763 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs757332023
rs757332023
2 0.925 0.120 2 70212795 missense variant G/A snv 2.0E-05 0.010 1.000 1 2017 2017