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: rs1165860389
rs1165860389
2 0.925 0.080 12 68715720 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2018 2018