rs111033335

minus

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

Make rs111033335(CAGTGTTCATGACATTC;CAGTGTTCATGACATTC)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20188982

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033335
dbSNP (classic)	rs111033335
ClinGen	rs111033335
ebi	rs111033335
HLI	rs111033335
Exac	rs111033335
Gnomad	rs111033335
Varsome	rs111033335
LitVar	rs111033335
Map	rs111033335
PheGenI	rs111033335
Biobank	rs111033335
1000 genomes	rs111033335
hgdp	rs111033335
ensembl	rs111033335
geneview	rs111033335
scholar	rs111033335
google	rs111033335
pharmgkb	rs111033335
gwascentral	rs111033335
openSNP	rs111033335
23andMe	rs111033335
SNPshot	rs111033335
SNPdbe	rs111033335
MSV3d	rs111033335
GWAS Ctlg	rs111033335

Max Magnitude

3

ClinVar
Risk	rs111033335(CAGTGTTCATGACATTC;CAGTGTTCATGACATTC)
Alt	rs111033335(CAGTGTTCATGACATTC;CAGTGTTCATGACATTC)
Reference	Rs111033335(GTGTCTGGA;GTGTCTGGA)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763121_20763129delTCCAGACACinsGAATGTCATGAACACTG
CLNSRC	ClinVar
CLNACC	RCV000037866.4, RCV000211782.1,

[PMID 17041943 ] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.