rs104894395

Orientation

minus

Stabilized

minus

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

Make rs104894395(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189352

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894395
dbSNP (classic)	rs104894395
ClinGen	rs104894395
ebi	rs104894395
HLI	rs104894395
Exac	rs104894395
Gnomad	rs104894395
Varsome	rs104894395
LitVar	rs104894395
Map	rs104894395
PheGenI	rs104894395
Biobank	rs104894395
1000 genomes	rs104894395
hgdp	rs104894395
ensembl	rs104894395
geneview	rs104894395
scholar	rs104894395
google	rs104894395
pharmgkb	rs104894395
gwascentral	rs104894395
openSNP	rs104894395
23andMe	rs104894395
SNPshot	rs104894395
SNPdbe	rs104894395
MSV3d	rs104894395
GWAS Ctlg	rs104894395

Max Magnitude

3

OMIM	121011
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894395(A;A)
Alt	rs104894395(A;A)
Reference	Rs104894395(G;G)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763491C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169604.1, RCV000218259.1,