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: rs1346496644
rs1346496644
1 1 85581440 missense variant C/G;T snv 0.010 1.000 1 2015 2015