rs767178508

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Carrier of a recessive deafness mutation
(C;C)	0	common/normal
(C;T)	3	Carrier of a recessive deafness mutation

Make rs767178508(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20189143

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs767178508
dbSNP (classic)	rs767178508
ClinGen	rs767178508
ebi	rs767178508
HLI	rs767178508
Exac	rs767178508
Gnomad	rs767178508
Varsome	rs767178508
LitVar	rs767178508
Map	rs767178508
PheGenI	rs767178508
Biobank	rs767178508
1000 genomes	rs767178508
hgdp	rs767178508
ensembl	rs767178508
geneview	rs767178508
scholar	rs767178508
google	rs767178508
pharmgkb	rs767178508
gwascentral	rs767178508
openSNP	rs767178508
23andMe	rs767178508
SNPshot	rs767178508
SNPdbe	rs767178508
MSV3d	rs767178508
GWAS Ctlg	rs767178508

Max Magnitude

3

note both c.439G>T and c.439G>A GJB2 mutations are considered pathogenic for deafness

ClinVar
Risk	rs767178508(T;T)
Alt	rs767178508(T;T)
Reference	Rs767178508(C;C)
Significance	Pathogenic
Disease	Deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a not provided
Reversed	0
HGVS	NC_000013.10:g.20763282C>T
CLNSRC
CLNACC	RCV000409580.1, RCV000411084.1, RCV000488996.1,