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rs72474224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a recessive deafness mutation
Make rs72474224(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189473
GeneGJB2
is asnp
is mentioned by
dbSNPrs72474224
ebirs72474224
HLIrs72474224
Exacrs72474224
Varsomers72474224
Maprs72474224
PheGenIrs72474224
hapmaprs72474224
1000 genomesrs72474224
hgdprs72474224
ensemblrs72474224
gopubmedrs72474224
geneviewrs72474224
scholarrs72474224
googlers72474224
pharmgkbrs72474224
gwascentralrs72474224
openSNPrs72474224
23andMers72474224
23andMe allrs72474224
SNP Nexus

SNPshotrs72474224
SNPdbers72474224
MSV3drs72474224
GWAS Ctlgrs72474224
GMAF0.01194
Max Magnitude3
OMIM121011
Desc
Variant0023
Relatedalso


ClinVar
Risk rs72474224(A,T;A,T)
Alt rs72474224(A,T;A,T)
Reference rs72474224(C;C)
Significance Other
Disease Non-syndromic genetic deafness Deafness not provided Hearing impairment
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness Deafness, autosomal recessive 1A not provided Hearing impairment
Reversed 0
HGVS NC_000013.10:g.20763612C>A; NC_000013.10:g.20763612C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000156043.1, RCV000018550.32, RCV000080365.3, RCV000146005.1, RCV000211759.1,



[PMID 170419OA-icon.png] Murine xenotropic type C viruses I. Distribution and further characterization of the virus in NZB mice.


[PMID 9529365OA-icon.png] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.


[PMID 10982180] Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.


[PMID 12121355] Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.


[PMID 16840571OA-icon.png] The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.


[PMID 17036313] V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.


[PMID 16380907OA-icon.png] GJB2 mutations and degree of hearing loss: a multicenter study.


[PMID 17935238] M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.


GET Evidence
GJB2-V37I
aa_change Val37Ile
aa_change_short V37I
impact pathogenic
qualified_impact Moderate clinical importance, Likely pathogenic
overall_frequency 0.00148726
summary This recessive variant is associated with mild hearing loss in Asians.



[PMID 26104599] A genetic coding variant rs72474224 in GJB2 is associated with clinical features of psoriasis vulgaris in a Chinese Han population