rs45471299

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs45471299(C;T)

Make rs45471299(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2164339

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs45471299
dbSNP (classic)	rs45471299
ClinGen	rs45471299
ebi	rs45471299
HLI	rs45471299
Exac	rs45471299
Gnomad	rs45471299
Varsome	rs45471299
LitVar	rs45471299
Map	rs45471299
PheGenI	rs45471299
Biobank	rs45471299
1000 genomes	rs45471299
hgdp	rs45471299
ensembl	rs45471299
geneview	rs45471299
scholar	rs45471299
google	rs45471299
pharmgkb	rs45471299
gwascentral	rs45471299
openSNP	rs45471299
23andMe	rs45471299
SNPshot	rs45471299
SNPdbe	rs45471299
MSV3d	rs45471299
GWAS Ctlg	rs45471299

Max Magnitude

0

OMIM	191290
Desc
Variant	0005
Related	also

ClinVar
Risk	rs45471299(T;T)
Alt	rs45471299(T;T)
Reference	Rs45471299(C;C)
Significance	Pathogenic
Disease	Segawa syndrome Dystonia
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive Dystonia
Reversed	1
HGVS	NC_000011.9:g.2185569G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013119.17, RCV000457250.1,