rs104894396

Orientation

minus

Stabilized

minus

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

Make rs104894396(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189511

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894396
dbSNP (classic)	rs104894396
ClinGen	rs104894396
ebi	rs104894396
HLI	rs104894396
Exac	rs104894396
Gnomad	rs104894396
Varsome	rs104894396
LitVar	rs104894396
Map	rs104894396
PheGenI	rs104894396
Biobank	rs104894396
1000 genomes	rs104894396
hgdp	rs104894396
ensembl	rs104894396
geneview	rs104894396
scholar	rs104894396
google	rs104894396
pharmgkb	rs104894396
gwascentral	rs104894396
openSNP	rs104894396
23andMe	rs104894396
SNPshot	rs104894396
SNPdbe	rs104894396
MSV3d	rs104894396
GWAS Ctlg	rs104894396

Max Magnitude

3

aka c.71G>A, W24X, W24*, p.Trp24Ter and Trp24*

OMIM	121011
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894396(A;A)
Alt	rs104894396(A;A)
Reference	Rs104894396(G;G)
Significance	Pathogenic
Disease	Deafness Hearing impairment Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness not provided Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763650C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018525.31, RCV000146028.1, RCV000211778.1, RCV000255370.1, RCV000411010.1,