Gene: GJB2 ×
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: rs3751385
rs3751385
GJB2
1 1.000 0.040 13 20188817 3 prime UTR variant A/G snv 0.74 0.710 1.000 2 2010 2012
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015