rs104894406

Orientation

minus

Stabilized

minus

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

Make rs104894406(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20188977

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894406
dbSNP (classic)	rs104894406
ClinGen	rs104894406
ebi	rs104894406
HLI	rs104894406
Exac	rs104894406
Gnomad	rs104894406
Varsome	rs104894406
LitVar	rs104894406
Map	rs104894406
PheGenI	rs104894406
Biobank	rs104894406
1000 genomes	rs104894406
hgdp	rs104894406
ensembl	rs104894406
geneview	rs104894406
scholar	rs104894406
google	rs104894406
pharmgkb	rs104894406
gwascentral	rs104894406
openSNP	rs104894406
23andMe	rs104894406
SNPshot	rs104894406
SNPdbe	rs104894406
MSV3d	rs104894406
GWAS Ctlg	rs104894406

Max Magnitude

4

OMIM	121011
Desc
Variant	0018
Related	also

ClinVar
Risk	rs104894406(T;T)
Alt	rs104894406(T;T)
Reference	Rs104894406(G;G)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763116C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018544.24,