rs104894440

Orientation

minus

Stabilized

minus

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

Make rs104894440(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54865349

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894440
dbSNP (classic)	rs104894440
ClinGen	rs104894440
ebi	rs104894440
HLI	rs104894440
Exac	rs104894440
Gnomad	rs104894440
Varsome	rs104894440
LitVar	rs104894440
Map	rs104894440
PheGenI	rs104894440
Biobank	rs104894440
1000 genomes	rs104894440
hgdp	rs104894440
ensembl	rs104894440
geneview	rs104894440
scholar	rs104894440
google	rs104894440
pharmgkb	rs104894440
gwascentral	rs104894440
openSNP	rs104894440
23andMe	rs104894440
SNPshot	rs104894440
SNPdbe	rs104894440
MSV3d	rs104894440
GWAS Ctlg	rs104894440

Max Magnitude

4.4

OMIM	600225
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894440(C;C)
Alt	rs104894440(C;C)
Reference	Rs104894440(A;A)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55332067T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009860.3,