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: rs59912467
rs59912467
7 0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 0.010 1.000 1 2018 2018