rs532203068

Orientation

plus

Stabilized

plus

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

Make rs532203068(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20188999

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs532203068
dbSNP (classic)	rs532203068
ClinGen	rs532203068
ebi	rs532203068
HLI	rs532203068
Exac	rs532203068
Gnomad	rs532203068
Varsome	rs532203068
LitVar	rs532203068
Map	rs532203068
PheGenI	rs532203068
Biobank	rs532203068
1000 genomes	rs532203068
hgdp	rs532203068
ensembl	rs532203068
geneview	rs532203068
scholar	rs532203068
google	rs532203068
pharmgkb	rs532203068
gwascentral	rs532203068
openSNP	rs532203068
23andMe	rs532203068
SNPshot	rs532203068
SNPdbe	rs532203068
MSV3d	rs532203068
GWAS Ctlg	rs532203068

Max Magnitude

3

ClinVar
Risk	rs532203068(A;A) rs532203068(C;C)
Alt	rs532203068(A;A) rs532203068(C;C)
Reference	Rs532203068(T;T)
Significance	Unknown
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763138T>C
CLNSRC
CLNACC	RCV000490342.1,