rs779018464

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs779018464(C;T)

Make rs779018464(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20189193

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs779018464
dbSNP (classic)	rs779018464
ClinGen	rs779018464
ebi	rs779018464
HLI	rs779018464
Exac	rs779018464
Gnomad	rs779018464
Varsome	rs779018464
LitVar	rs779018464
Map	rs779018464
PheGenI	rs779018464
Biobank	rs779018464
1000 genomes	rs779018464
hgdp	rs779018464
ensembl	rs779018464
geneview	rs779018464
scholar	rs779018464
google	rs779018464
pharmgkb	rs779018464
gwascentral	rs779018464
openSNP	rs779018464
23andMe	rs779018464
SNPshot	rs779018464
SNPdbe	rs779018464
MSV3d	rs779018464
GWAS Ctlg	rs779018464

Max Magnitude

0

ClinVar
Risk	rs779018464(G;G) rs779018464(T;T)
Alt	rs779018464(G;G) rs779018464(T;T)
Reference	Rs779018464(C;C)
Significance	Probable-Pathogenic
Disease	Nonsyndromic hearing loss and deafness Deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763332C>G
CLNSRC
CLNACC	RCV000213896.1, RCV000409464.1, RCV000411886.1,