rs104894438

Orientation

minus

Stabilized

minus

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

Make rs104894438(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

54845792

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894438
dbSNP (classic)	rs104894438
ClinGen	rs104894438
ebi	rs104894438
HLI	rs104894438
Exac	rs104894438
Gnomad	rs104894438
Varsome	rs104894438
LitVar	rs104894438
Map	rs104894438
PheGenI	rs104894438
Biobank	rs104894438
1000 genomes	rs104894438
hgdp	rs104894438
ensembl	rs104894438
geneview	rs104894438
scholar	rs104894438
google	rs104894438
pharmgkb	rs104894438
gwascentral	rs104894438
openSNP	rs104894438
23andMe	rs104894438
SNPshot	rs104894438
SNPdbe	rs104894438
MSV3d	rs104894438
GWAS Ctlg	rs104894438

Max Magnitude

4.4

c.602G>A (p.Gly201Glu)

23andMe name: i5000654

OMIM	600225
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894438(A;A)
Alt	rs104894438(A;A)
Reference	Rs104894438(G;G)
Significance	Pathogenic
Disease	Dystonia 5
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type
Reversed	1
HGVS	NC_000014.8:g.55312510C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009856.3,