rs104894443

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	4	dystonia due to autosomal recessive GCH1 mutation
(A;G)	3	Carrier of a dopa-responsive dystonia mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

14

Position

54844137

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894443
dbSNP (classic)	rs104894443
ClinGen	rs104894443
ebi	rs104894443
HLI	rs104894443
Exac	rs104894443
Gnomad	rs104894443
Varsome	rs104894443
LitVar	rs104894443
Map	rs104894443
PheGenI	rs104894443
Biobank	rs104894443
1000 genomes	rs104894443
hgdp	rs104894443
ensembl	rs104894443
geneview	rs104894443
scholar	rs104894443
google	rs104894443
pharmgkb	rs104894443
gwascentral	rs104894443
openSNP	rs104894443
23andMe	rs104894443
SNPshot	rs104894443
SNPdbe	rs104894443
MSV3d	rs104894443
GWAS Ctlg	rs104894443

Max Magnitude

4

OMIM	600225
Desc
Variant	0017
Related	also

ClinVar
Risk	Rs104894443(A;A)
Alt	Rs104894443(A;A)
Reference	Rs104894443(G;G)
Significance	Pathogenic
Disease	GTP cyclohydrolase I deficiency
Variation	info
Gene	GCH1
CLNDBN	GTP cyclohydrolase I deficiency
Reversed	1
HGVS	NC_000014.8:g.55310855C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009870.2,