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: rs1057519883
rs1057519883
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016