rs786204597

Orientation

minus

Stabilized

minus

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

Make rs786204597(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20188984

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs786204597
dbSNP (classic)	rs786204597
ClinGen	rs786204597
ebi	rs786204597
HLI	rs786204597
Exac	rs786204597
Gnomad	rs786204597
Varsome	rs786204597
LitVar	rs786204597
Map	rs786204597
PheGenI	rs786204597
Biobank	rs786204597
1000 genomes	rs786204597
hgdp	rs786204597
ensembl	rs786204597
geneview	rs786204597
scholar	rs786204597
google	rs786204597
pharmgkb	rs786204597
gwascentral	rs786204597
openSNP	rs786204597
23andMe	rs786204597
SNPshot	rs786204597
SNPdbe	rs786204597
MSV3d	rs786204597
GWAS Ctlg	rs786204597

Max Magnitude

3

ClinVar
Risk	rs786204597(A;A) rs786204597(T;T)
Alt	rs786204597(A;A) rs786204597(T;T)
Reference	Rs786204597(G;G)
Significance	Other
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763123C>A; NC_000013.10:g.20763123C>T
CLNSRC
CLNACC	RCV000169350.1, RCV000210857.1, RCV000411925.1,