Rs104894434

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894434(C;C)
Make rs104894434(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position54844108
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894434
Exacrs104894434
PheGenIrs104894434
nextbiors104894434
hapmaprs104894434
1000 genomesrs104894434
hgdprs104894434
ensemblrs104894434
gopubmedrs104894434
geneviewrs104894434
scholarrs104894434
googlers104894434
pharmgkbrs104894434
gwascentralrs104894434
openSNPrs104894434
23andMers104894434
23andMe allrs104894434
SNP Nexus

SNPshotrs104894434
SNPdbers104894434
MSV3drs104894434
OMIM600225
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894434(C;C)
Alt rs104894434(C;C)
Reference rs104894434(T;T)
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.55310826A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009863.1,