rs104894433

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4.4	dystonia due on GCH1 loss-of-function mutation

Make rs104894433(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54902402

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894433
dbSNP (classic)	rs104894433
ClinGen	rs104894433
ebi	rs104894433
HLI	rs104894433
Exac	rs104894433
Gnomad	rs104894433
Varsome	rs104894433
LitVar	rs104894433
Map	rs104894433
PheGenI	rs104894433
Biobank	rs104894433
1000 genomes	rs104894433
hgdp	rs104894433
ensembl	rs104894433
geneview	rs104894433
scholar	rs104894433
google	rs104894433
pharmgkb	rs104894433
gwascentral	rs104894433
openSNP	rs104894433
23andMe	rs104894433
SNPshot	rs104894433
SNPdbe	rs104894433
MSV3d	rs104894433
GWAS Ctlg	rs104894433

Max Magnitude

4.4

OMIM	600225
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894433(A;A) rs104894433(G;G) rs104894433(T;T)
Alt	rs104894433(A;A) rs104894433(G;G) rs104894433(T;T)
Reference	Rs104894433(C;C)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55369120G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009853.3,