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: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2001 2016
dbSNP: rs587780072
rs587780072
3 0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2012 2012