rs143343083

Orientation

plus

Stabilized

plus

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

Make rs143343083(A;A)

Reference

GRCh38 38.1/142

Chromosome

13

Position

20189284

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs143343083
dbSNP (classic)	rs143343083
ClinGen	rs143343083
ebi	rs143343083
HLI	rs143343083
Exac	rs143343083
Gnomad	rs143343083
Varsome	rs143343083
LitVar	rs143343083
Map	rs143343083
PheGenI	rs143343083
Biobank	rs143343083
1000 genomes	rs143343083
hgdp	rs143343083
ensembl	rs143343083
geneview	rs143343083
scholar	rs143343083
google	rs143343083
pharmgkb	rs143343083
gwascentral	rs143343083
openSNP	rs143343083
23andMe	rs143343083
SNPshot	rs143343083
SNPdbe	rs143343083
MSV3d	rs143343083
GWAS Ctlg	rs143343083

Max Magnitude

3

ClinVar
Risk	rs143343083(A;A)
Alt	rs143343083(A;A)
Reference	Rs143343083(G;G)
Significance	Pathogenic
Disease	Hearing impairment Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Hearing impairment Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness
Reversed	0
HGVS	NC_000013.10:g.20763423G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146015.1, RCV000169347.1, RCV000215444.1,