rs104894439

Orientation

minus

Stabilized

minus

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

Make rs104894439(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54902661

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894439
dbSNP (classic)	rs104894439
ClinGen	rs104894439
ebi	rs104894439
HLI	rs104894439
Exac	rs104894439
Gnomad	rs104894439
Varsome	rs104894439
LitVar	rs104894439
Map	rs104894439
PheGenI	rs104894439
Biobank	rs104894439
1000 genomes	rs104894439
hgdp	rs104894439
ensembl	rs104894439
geneview	rs104894439
scholar	rs104894439
google	rs104894439
pharmgkb	rs104894439
gwascentral	rs104894439
openSNP	rs104894439
23andMe	rs104894439
SNPshot	rs104894439
SNPdbe	rs104894439
MSV3d	rs104894439
GWAS Ctlg	rs104894439

Max Magnitude

4.4

OMIM	600225
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894439(C;C)
Alt	rs104894439(C;C)
Reference	Rs104894439(G;G)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55369379C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009859.5,