rs200891969

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs200891969(C;T)

Make rs200891969(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

54845784

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs200891969
dbSNP (classic)	rs200891969
ClinGen	rs200891969
ebi	rs200891969
HLI	rs200891969
Exac	rs200891969
Gnomad	rs200891969
Varsome	rs200891969
LitVar	rs200891969
Map	rs200891969
PheGenI	rs200891969
Biobank	rs200891969
1000 genomes	rs200891969
hgdp	rs200891969
ensembl	rs200891969
geneview	rs200891969
scholar	rs200891969
google	rs200891969
pharmgkb	rs200891969
gwascentral	rs200891969
openSNP	rs200891969
23andMe	rs200891969
SNPshot	rs200891969
SNPdbe	rs200891969
MSV3d	rs200891969
GWAS Ctlg	rs200891969

Max Magnitude

0

ClinVar
Risk	rs200891969(T;T)
Alt	rs200891969(T;T)
Reference	Rs200891969(C;C)
Significance	Probable-Pathogenic
Disease	Dystonia not specified not provided
Variation	info
Gene	GCH1
CLNDBN	Dystonia, dopa-responsive not specified not provided
Reversed	0
HGVS	NC_000014.8:g.55312502C>T
CLNSRC
CLNACC	RCV000148506.1, RCV000178722.1, RCV000489411.1,