GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3751385
rs3751385
1.000 0.040 13 20188817 3 prime UTR variant A/G snv 0.74
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.710 1.000 2 2010 2012
dbSNP: rs72474224
rs72474224
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015