rs80338947

minus

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

Make rs80338947(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189222

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338947
dbSNP (classic)	rs80338947
ClinGen	rs80338947
ebi	rs80338947
HLI	rs80338947
Exac	rs80338947
Gnomad	rs80338947
Varsome	rs80338947
LitVar	rs80338947
Map	rs80338947
PheGenI	rs80338947
Biobank	rs80338947
1000 genomes	rs80338947
hgdp	rs80338947
ensembl	rs80338947
geneview	rs80338947
scholar	rs80338947
google	rs80338947
pharmgkb	rs80338947
gwascentral	rs80338947
openSNP	rs80338947
23andMe	rs80338947
SNPshot	rs80338947
SNPdbe	rs80338947
MSV3d	rs80338947
GWAS Ctlg	rs80338947

Max Magnitude

3

ClinVar
Risk	rs80338947(-;-)
Alt	rs80338947(-;-)
Reference	Rs80338947(GAG;GAG)
Significance	Pathogenic
Disease	Deafness Hearing impairment Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763361_20763363delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018530.33, RCV000146018.1, RCV000211776.1,

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

[PMID 12673800] Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

[PMID 15666300] GJB2 mutations: passage through Iran.

[PMID 15967879] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

[PMID 16712961] Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

[PMID 18941476 ] Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.