rs104894413

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 rs104894413(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189451

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894413
dbSNP (classic)	rs104894413
ClinGen	rs104894413
ebi	rs104894413
HLI	rs104894413
Exac	rs104894413
Gnomad	rs104894413
Varsome	rs104894413
LitVar	rs104894413
Map	rs104894413
PheGenI	rs104894413
Biobank	rs104894413
1000 genomes	rs104894413
hgdp	rs104894413
ensembl	rs104894413
geneview	rs104894413
scholar	rs104894413
google	rs104894413
pharmgkb	rs104894413
gwascentral	rs104894413
openSNP	rs104894413
23andMe	rs104894413
SNPshot	rs104894413
SNPdbe	rs104894413
MSV3d	rs104894413
GWAS Ctlg	rs104894413

Max Magnitude

4

OMIM	121011
Desc
Variant	0031
Related	also

ClinVar
Risk	rs104894413(A;A) rs104894413(C;C)
Alt	rs104894413(A;A) rs104894413(C;C)
Reference	Rs104894413(G;G)
Significance	Other
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763590C>G; NC_000013.10:g.20763590C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018559.27, RCV000169176.2,