rs72561723

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	Deafness and keratitis; possible dominant or recessive
(A;G)	6	Deafness and keratitis; possible dominant or recessive
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189448

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs72561723
dbSNP (classic)	rs72561723
ClinGen	rs72561723
ebi	rs72561723
HLI	rs72561723
Exac	rs72561723
Gnomad	rs72561723
Varsome	rs72561723
LitVar	rs72561723
Map	rs72561723
PheGenI	rs72561723
Biobank	rs72561723
1000 genomes	rs72561723
hgdp	rs72561723
ensembl	rs72561723
geneview	rs72561723
scholar	rs72561723
google	rs72561723
pharmgkb	rs72561723
gwascentral	rs72561723
openSNP	rs72561723
23andMe	rs72561723
SNPshot	rs72561723
SNPdbe	rs72561723
MSV3d	rs72561723
GWAS Ctlg	rs72561723

Max Magnitude

6

This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.

OMIM	121011
Desc
Variant	0033
Related	also

ClinVar
Risk	Rs72561723(A;A)
Alt	Rs72561723(A;A)
Reference	Rs72561723(G;G)
Significance	Pathogenic
Disease	Keratitis-ichthyosis-deafness syndrome Deafness
Variation	info
Gene	GJB2
CLNDBN	Keratitis-ichthyosis-deafness syndrome, autosomal dominant Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763587C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018561.30, RCV000022510.32, RCV000258130.1,