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: rs11890028
rs11890028
1 1.000 0.040 2 166086767 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs121917953
rs121917953
4 0.851 0.080 2 166054677 missense variant T/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121917986
rs121917986
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918628
rs121918628
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2008 2008