rs80338940

minus

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

Make rs80338940(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20192782

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338940
dbSNP (classic)	rs80338940
ClinGen	rs80338940
ebi	rs80338940
HLI	rs80338940
Exac	rs80338940
Gnomad	rs80338940
Varsome	rs80338940
LitVar	rs80338940
Map	rs80338940
PheGenI	rs80338940
Biobank	rs80338940
1000 genomes	rs80338940
hgdp	rs80338940
ensembl	rs80338940
geneview	rs80338940
scholar	rs80338940
google	rs80338940
pharmgkb	rs80338940
gwascentral	rs80338940
openSNP	rs80338940
23andMe	rs80338940
SNPshot	rs80338940
SNPdbe	rs80338940
MSV3d	rs80338940
GWAS Ctlg	rs80338940

Max Magnitude

3

OMIM	121011
Desc
Variant	0029
Related	also

ClinVar
Risk	rs80338940(A;A)
Alt	rs80338940(A;A)
Reference	Rs80338940(G;G)
Significance	Pathogenic
Disease	Deafness Hearing impairment Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness not provided
Reversed	1
HGVS	NC_000013.10:g.20766921C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018557.34, RCV000146002.1, RCV000211766.1, RCV000418755.1,

[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 14985372 ] 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.