Gene: GJB3 ×
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: rs1557659237
rs1557659237
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34784770 stop gained G/A snv 0.700 0
dbSNP: rs74315319
rs74315319
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05 0.020 1.000 2 2005 2017
dbSNP: rs28937583
rs28937583
GJB3 ; SMIM12 ; LOC105378642
3 0.925 0.080 1 34784863 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs74315318
rs74315318
GJB3 ; SMIM12 ; LOC105378642
3 0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04 0.010 1.000 1 2005 2005