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: rs121909071
rs121909071
1 1.000 0.080 11 2918030 missense variant C/T snv 7.0E-06 0.800 1.000 5 2013 2014