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: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 5 2000 2010
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 4 2004 2009
dbSNP: rs267606921
rs267606921
3 0.882 0.160 1 114713941 missense variant G/A snv 0.700 1.000 2 2010 2011
dbSNP: rs267606920
rs267606920
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012