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: rs267601394
rs267601394
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.020 1.000 2 2014 2016
dbSNP: rs1057519833
rs1057519833
3 0.925 0.120 7 148809375 missense variant G/C snv 0.010 1.000 1 2012 2012