rs772264564

Orientation

plus

Stabilized

plus

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

Make rs772264564(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20189117

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs772264564
dbSNP (classic)	rs772264564
ClinGen	rs772264564
ebi	rs772264564
HLI	rs772264564
Exac	rs772264564
Gnomad	rs772264564
Varsome	rs772264564
LitVar	rs772264564
Map	rs772264564
PheGenI	rs772264564
Biobank	rs772264564
1000 genomes	rs772264564
hgdp	rs772264564
ensembl	rs772264564
geneview	rs772264564
scholar	rs772264564
google	rs772264564
pharmgkb	rs772264564
gwascentral	rs772264564
openSNP	rs772264564
23andMe	rs772264564
SNPshot	rs772264564
SNPdbe	rs772264564
MSV3d	rs772264564
GWAS Ctlg	rs772264564

Max Magnitude

3

ClinVar
Risk	rs772264564(T;T)
Alt	rs772264564(T;T)
Reference	Rs772264564(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763256A>T
CLNSRC
CLNACC	RCV000175761.1,