rs104894437

Orientation

minus

Stabilized

minus

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

Make rs104894437(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54865379

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894437
dbSNP (classic)	rs104894437
ClinGen	rs104894437
ebi	rs104894437
HLI	rs104894437
Exac	rs104894437
Gnomad	rs104894437
Varsome	rs104894437
LitVar	rs104894437
Map	rs104894437
PheGenI	rs104894437
Biobank	rs104894437
1000 genomes	rs104894437
hgdp	rs104894437
ensembl	rs104894437
geneview	rs104894437
scholar	rs104894437
google	rs104894437
pharmgkb	rs104894437
gwascentral	rs104894437
openSNP	rs104894437
23andMe	rs104894437
SNPshot	rs104894437
SNPdbe	rs104894437
MSV3d	rs104894437
GWAS Ctlg	rs104894437

Max Magnitude

4.4

c.401A>T (p.Asp134Val)

23andMe name: i5000655

OMIM	600225
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894437(T;T)
Alt	rs104894437(T;T)
Reference	Rs104894437(A;A)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55332097T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009854.3,