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: rs74315315
rs74315315
GJB3 ; SMIM12 ; LOC105378642
2 0.925 0.080 1 34784796 missense variant G/A;C snv 3.2E-05 0.800 1.000 3 1998 2000
dbSNP: rs74315316
rs74315316
GJB3 ; SMIM12 ; LOC105378642
4 0.925 0.080 1 34784797 missense variant G/A snv 0.800 1.000 3 1998 2000
dbSNP: rs74315317
rs74315317
GJB3 ; SMIM12 ; LOC105378642
3 1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 0.800 1.000 3 1998 2000
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
5 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.800 1.000 3 1998 2000
dbSNP: rs28937583
rs28937583
GJB3 ; SMIM12 ; LOC105378642
3 0.925 0.080 1 34784863 missense variant T/C snv 0.700 0