rs28931592

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189106

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs28931592
dbSNP (classic)	rs28931592
ClinGen	rs28931592
ebi	rs28931592
HLI	rs28931592
Exac	rs28931592
Gnomad	rs28931592
Varsome	rs28931592
LitVar	rs28931592
Map	rs28931592
PheGenI	rs28931592
Biobank	rs28931592
1000 genomes	rs28931592
hgdp	rs28931592
ensembl	rs28931592
geneview	rs28931592
scholar	rs28931592
google	rs28931592
pharmgkb	rs28931592
gwascentral	rs28931592
openSNP	rs28931592
23andMe	rs28931592
SNPshot	rs28931592
SNPdbe	rs28931592
MSV3d	rs28931592
GWAS Ctlg	rs28931592

Max Magnitude

3

deafness

OMIM	121011
Desc	DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1
Variant	0024
Related	also

ClinVar
Risk	Rs28931592(T;T)
Alt	Rs28931592(T;T)
Reference	Rs28931592(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763245T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018551.28,