Gene: SMIM12 ×
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: rs74315320
rs74315320
GJB3 ; SMIM12 ; LOC105378642
2 0.925 0.120 1 34785183 missense variant A/G snv 0.700 0
dbSNP: rs770247378
rs770247378
GJB3 ; SMIM12 ; LOC105378642
1 1.000 0.120 1 34785183 inframe deletion ATT/- del 0.700 0