rs786204690

Orientation

minus

Stabilized

minus

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

Make rs786204690(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20189174

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs786204690
dbSNP (classic)	rs786204690
ClinGen	rs786204690
ebi	rs786204690
HLI	rs786204690
Exac	rs786204690
Gnomad	rs786204690
Varsome	rs786204690
LitVar	rs786204690
Map	rs786204690
PheGenI	rs786204690
Biobank	rs786204690
1000 genomes	rs786204690
hgdp	rs786204690
ensembl	rs786204690
geneview	rs786204690
scholar	rs786204690
google	rs786204690
pharmgkb	rs786204690
gwascentral	rs786204690
openSNP	rs786204690
23andMe	rs786204690
SNPshot	rs786204690
SNPdbe	rs786204690
MSV3d	rs786204690
GWAS Ctlg	rs786204690

Max Magnitude

3

ClinVar
Risk	rs786204690(A;A)
Alt	rs786204690(A;A)
Reference	Rs786204690(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763313G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169498.1, RCV000258130.1,