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: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 3 2008 2013
dbSNP: rs121913413
rs121913413
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.700 0
dbSNP: rs4533622
rs4533622
6 0.807 0.240 3 41200847 intron variant C/A;T snv 0.010 1.000 1 2014 2014