rs150529554

Orientation

plus

Stabilized

plus

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

Make rs150529554(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20189227

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs150529554
dbSNP (classic)	rs150529554
ClinGen	rs150529554
ebi	rs150529554
HLI	rs150529554
Exac	rs150529554
Gnomad	rs150529554
Varsome	rs150529554
LitVar	rs150529554
Map	rs150529554
PheGenI	rs150529554
Biobank	rs150529554
1000 genomes	rs150529554
hgdp	rs150529554
ensembl	rs150529554
geneview	rs150529554
scholar	rs150529554
google	rs150529554
pharmgkb	rs150529554
gwascentral	rs150529554
openSNP	rs150529554
23andMe	rs150529554
SNPshot	rs150529554
SNPdbe	rs150529554
MSV3d	rs150529554
GWAS Ctlg	rs150529554

Max Magnitude

3

ClinVar
Risk	rs150529554(T;T)
Alt	rs150529554(T;T)
Reference	Rs150529554(C;C)
Significance	Probable-Pathogenic
Disease	Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Mutilating keratoderma Keratitis-Ichthyosis-Deafness Syndrome Hystrix-like ichthyosis with deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant Mutilating keratoderma Keratitis-Ichthyosis-Deafness Syndrome Hystrix-like ichthyosis with deafness
Reversed	0
HGVS	NC_000013.10:g.20763366C>T
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000168672.2, RCV000278504.1, RCV000336897.1, RCV000342849.1, RCV000404731.1, RCV000407574.1,