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: rs74315318
rs74315318
GJB3 ; SMIM12 ; LOC105378642
3 0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04 0.800 1.000 1 1998 1998
dbSNP: rs74315320
rs74315320
GJB3 ; SMIM12 ; LOC105378642
2 0.925 0.120 1 34785183 missense variant A/G snv 0.700 1.000 1 1998 1998