rs1801002

Orientation

minus

Stabilized

minus

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

Make rs1801002(-;-)

Make rs1801002(-;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189547

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs1801002
dbSNP (classic)	rs1801002
ClinGen	rs1801002
ebi	rs1801002
HLI	rs1801002
Exac	rs1801002
Gnomad	rs1801002
Varsome	rs1801002
LitVar	rs1801002
Map	rs1801002
PheGenI	rs1801002
Biobank	rs1801002
1000 genomes	rs1801002
hgdp	rs1801002
ensembl	rs1801002
geneview	rs1801002
scholar	rs1801002
google	rs1801002
pharmgkb	rs1801002
gwascentral	rs1801002
openSNP	rs1801002
23andMe	rs1801002
SNPshot	rs1801002
SNPdbe	rs1801002
MSV3d	rs1801002
GWAS Ctlg	rs1801002

Max Magnitude

3

ClinVar
Risk	rs1801002(A;A) rs1801002(T;T)
Alt	rs1801002(A;A) rs1801002(T;T)
Reference	Rs1801002(G;G)
Significance	Other
Disease	Deafness not provided Hearing impairment Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A not provided Hearing impairment Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763686C>A
CLNSRC	HGMD
CLNACC	RCV000020570.6, RCV000080372.3, RCV000146020.1, RCV000211720.1, RCV000412324.1,

[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.