rs104894436

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4.4	GCH1-deficient dopa-responsive dystonia (likely)

Make rs104894436(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54845808

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894436
dbSNP (classic)	rs104894436
ClinGen	rs104894436
ebi	rs104894436
HLI	rs104894436
Exac	rs104894436
Gnomad	rs104894436
Varsome	rs104894436
LitVar	rs104894436
Map	rs104894436
PheGenI	rs104894436
Biobank	rs104894436
1000 genomes	rs104894436
hgdp	rs104894436
ensembl	rs104894436
geneview	rs104894436
scholar	rs104894436
google	rs104894436
pharmgkb	rs104894436
gwascentral	rs104894436
openSNP	rs104894436
23andMe	rs104894436
SNPshot	rs104894436
SNPdbe	rs104894436
MSV3d	rs104894436
GWAS Ctlg	rs104894436

Max Magnitude

4.4

c.586G>T (p.Ala196Ser)

23andMe name: i5000649

OMIM	600225
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894436(T;T)
Alt	rs104894436(T;T)
Reference	Rs104894436(G;G)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55312526C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009867.3,