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: rs2296545
rs2296545
8 0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 0.010 1.000 1 2017 2017