rs121917762

Orientation

minus

Stabilized

minus

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

Make rs121917762(A;A)

Make rs121917762(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2165727

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs121917762
dbSNP (classic)	rs121917762
ClinGen	rs121917762
ebi	rs121917762
HLI	rs121917762
Exac	rs121917762
Gnomad	rs121917762
Varsome	rs121917762
LitVar	rs121917762
Map	rs121917762
PheGenI	rs121917762
Biobank	rs121917762
1000 genomes	rs121917762
hgdp	rs121917762
ensembl	rs121917762
geneview	rs121917762
scholar	rs121917762
google	rs121917762
pharmgkb	rs121917762
gwascentral	rs121917762
openSNP	rs121917762
23andMe	rs121917762
SNPshot	rs121917762
SNPdbe	rs121917762
MSV3d	rs121917762
GWAS Ctlg	rs121917762

Max Magnitude

0

OMIM	191290
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917762(A;A)
Alt	rs121917762(A;A)
Reference	Rs121917762(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.2186957G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013117.22, RCV000229249.1,