rs104894407

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a recessive deafness mutation
(C;G)	4	Deafness mutation (dominant)
(G;G)	0	common in clinvar

Make rs104894407(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189450

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894407
dbSNP (classic)	rs104894407
ClinGen	rs104894407
ebi	rs104894407
HLI	rs104894407
Exac	rs104894407
Gnomad	rs104894407
Varsome	rs104894407
LitVar	rs104894407
Map	rs104894407
PheGenI	rs104894407
Biobank	rs104894407
1000 genomes	rs104894407
hgdp	rs104894407
ensembl	rs104894407
geneview	rs104894407
scholar	rs104894407
google	rs104894407
pharmgkb	rs104894407
gwascentral	rs104894407
openSNP	rs104894407
23andMe	rs104894407
SNPshot	rs104894407
SNPdbe	rs104894407
MSV3d	rs104894407
GWAS Ctlg	rs104894407

Max Magnitude

4

OMIM	121011
Desc
Variant	0019
Related	also

ClinVar
Risk	rs104894407(A;A) rs104894407(C;C)
Alt	rs104894407(A;A) rs104894407(C;C)
Reference	Rs104894407(G;G)
Significance	Pathogenic
Disease	Deafness Hearing impairment
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a Hearing impairment
Reversed	1
HGVS	NC_000013.10:g.20763589C>G; NC_000013.10:g.20763589C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018545.30, RCV000146007.1,