rs104894401

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	4	Deafness mutation (dominant)
(G;G)	0	common in clinvar

Make rs104894401(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189154

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894401
dbSNP (classic)	rs104894401
ClinGen	rs104894401
ebi	rs104894401
HLI	rs104894401
Exac	rs104894401
Gnomad	rs104894401
Varsome	rs104894401
LitVar	rs104894401
Map	rs104894401
PheGenI	rs104894401
Biobank	rs104894401
1000 genomes	rs104894401
hgdp	rs104894401
ensembl	rs104894401
geneview	rs104894401
scholar	rs104894401
google	rs104894401
pharmgkb	rs104894401
gwascentral	rs104894401
openSNP	rs104894401
23andMe	rs104894401
SNPshot	rs104894401
SNPdbe	rs104894401
MSV3d	rs104894401
GWAS Ctlg	rs104894401

Max Magnitude

4

OMIM	121011
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894401(A;A)
Alt	rs104894401(A;A)
Reference	Rs104894401(G;G)
Significance	Other
Disease	Deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A not provided
Reversed	1
HGVS	NC_000013.10:g.20763293C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018542.25, RCV000018543.29, RCV000484997.1,