rs756484720

Orientation

plus

Stabilized

plus

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

Make rs756484720(-;TT)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20189247

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs756484720
dbSNP (classic)	rs756484720
ClinGen	rs756484720
ebi	rs756484720
HLI	rs756484720
Exac	rs756484720
Gnomad	rs756484720
Varsome	rs756484720
LitVar	rs756484720
Map	rs756484720
PheGenI	rs756484720
Biobank	rs756484720
1000 genomes	rs756484720
hgdp	rs756484720
ensembl	rs756484720
geneview	rs756484720
scholar	rs756484720
google	rs756484720
pharmgkb	rs756484720
gwascentral	rs756484720
openSNP	rs756484720
23andMe	rs756484720
SNPshot	rs756484720
SNPdbe	rs756484720
MSV3d	rs756484720
GWAS Ctlg	rs756484720

Max Magnitude

3

ClinVar
Risk	Rs756484720(-;-)
Alt	Rs756484720(-;-)
Reference	Rs756484720(TT;TT)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763386_20763387delTT
CLNSRC
CLNACC	RCV000169446.1,