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: rs121909631
rs121909631
5 0.827 0.280 8 38419696 missense variant T/C snv 0.800 1.000 2 2005 2006
dbSNP: rs121909632
rs121909632
1 1.000 0.080 8 38421889 missense variant T/A;C snv 4.0E-06 0.800 1.000 2 2005 2006
dbSNP: rs121909634
rs121909634
1 1.000 0.080 8 38419676 missense variant A/G snv 0.800 1.000 2 2005 2006
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0