Source: ALL
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: rs1160313950
rs1160313950
CYP11B2 ; GML
1 1.000 0.040 8 142914716 missense variant A/T snv 4.2E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs121912978
rs121912978
CYP11B2 ; GML
2 0.925 0.040 8 142915087 missense variant G/A snv 4.8E-05 4.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs61757294
rs61757294
CYP11B2 ; GML
2 0.925 0.040 8 142912850 missense variant A/C;G snv 3.7E-05; 8.5E-02 0.010 1.000 1 2016 2016