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: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3826795
rs3826795
2 0.925 0.120 19 46297176 intron variant G/A;T snv 0.010 < 0.001 1 2017 2017