rs104894441

Orientation

minus

Stabilized

minus

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

Make rs104894441(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54865376

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894441
dbSNP (classic)	rs104894441
ClinGen	rs104894441
ebi	rs104894441
HLI	rs104894441
Exac	rs104894441
Gnomad	rs104894441
Varsome	rs104894441
LitVar	rs104894441
Map	rs104894441
PheGenI	rs104894441
Biobank	rs104894441
1000 genomes	rs104894441
hgdp	rs104894441
ensembl	rs104894441
geneview	rs104894441
scholar	rs104894441
google	rs104894441
pharmgkb	rs104894441
gwascentral	rs104894441
openSNP	rs104894441
23andMe	rs104894441
SNPshot	rs104894441
SNPdbe	rs104894441
MSV3d	rs104894441
GWAS Ctlg	rs104894441

Max Magnitude

4.4

OMIM	600225
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104894441(A;A)
Alt	rs104894441(A;A)
Reference	Rs104894441(T;T)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55332094A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009868.2,