rs104894442
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 4 | dystonia due to autosomal recessive GCH1 mutation |
(C;G) | 3 | Carrier of a dopa-responsive dystonia mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 54844023 |
Gene | GCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894442 |
dbSNP (classic) | rs104894442 |
ClinGen | rs104894442 |
ebi | rs104894442 |
HLI | rs104894442 |
Exac | rs104894442 |
Gnomad | rs104894442 |
Varsome | rs104894442 |
LitVar | rs104894442 |
Map | rs104894442 |
PheGenI | rs104894442 |
Biobank | rs104894442 |
1000 genomes | rs104894442 |
hgdp | rs104894442 |
ensembl | rs104894442 |
geneview | rs104894442 |
scholar | rs104894442 |
rs104894442 | |
pharmgkb | rs104894442 |
gwascentral | rs104894442 |
openSNP | rs104894442 |
23andMe | rs104894442 |
SNPshot | rs104894442 |
SNPdbe | rs104894442 |
MSV3d | rs104894442 |
GWAS Ctlg | rs104894442 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | Rs104894442(C;C) |
Alt | Rs104894442(C;C) |
Reference | Rs104894442(G;G) |
Significance | Pathogenic |
Disease | Dystonia |
Variation | info |
Gene | GCH1 |
CLNDBN | Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive |
Reversed | 1 |
HGVS | NC_000014.8:g.55310741C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009869.2, |