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rs80338940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs80338940(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20192782
GeneGJB2
is asnp
is mentioned by
dbSNPrs80338940
ebirs80338940
HLIrs80338940
Exacrs80338940
Varsomers80338940
Maprs80338940
PheGenIrs80338940
hapmaprs80338940
1000 genomesrs80338940
hgdprs80338940
ensemblrs80338940
gopubmedrs80338940
geneviewrs80338940
scholarrs80338940
googlers80338940
pharmgkbrs80338940
gwascentralrs80338940
openSNPrs80338940
23andMers80338940
23andMe allrs80338940
SNP Nexus

SNPshotrs80338940
SNPdbers80338940
MSV3drs80338940
GWAS Ctlgrs80338940
Max Magnitude3
OMIM121011
Desc
Variant0029
Relatedalso
ClinVar
Risk rs80338940(A;A)
Alt rs80338940(A;A)
Reference rs80338940(G;G)
Significance Pathogenic
Disease Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20766921C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018557.34, RCV000146002.1, RCV000211766.1,


[PMID 10218527] Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.


[PMID 11935342] Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.


[PMID 14985372OA-icon.png] A genotype-phenotype correlation for GJB2 (connexin 26) deafness.


[PMID 16650079] High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2.