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: rs121908851
rs121908851
GJB3 ; SMIM12 ; LOC105378642
1 1.000 0.120 1 34785259 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs80338943
rs80338943
GJB2
6 0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-04 0.700 0