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: rs3738880
rs3738880
4 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
dbSNP: rs80338758
rs80338758
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.010 1.000 1 2011 2011