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: rs121912978
rs121912978
1 0.925 0.040 8 142915087 missense variant G/A snv 4.8E-05 4.2E-05 0.800 1.000 5 1992 2003
dbSNP: rs72554626
rs72554626
1 1.000 8 142912000 missense variant T/C snv 0.800 1.000 5 1992 2003
dbSNP: rs104894072
rs104894072
1 1.000 8 142915047 missense variant T/G snv 7.2E-05 1.1E-04 0.700 1.000 5 1992 2003
dbSNP: rs28931609
rs28931609
1 1.000 8 142915100 missense variant G/A;T snv 2.0E-05 2.1E-05 0.700 1.000 5 1992 2003
dbSNP: rs61757294
rs61757294
1 0.925 0.040 8 142912850 missense variant A/C;G snv 3.7E-05; 8.5E-02 0.700 0