Rs104894443

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894443(A;A)
Make rs104894443(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position54844137
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894443
PheGenIrs104894443
nextbiors104894443
hapmaprs104894443
1000 genomesrs104894443
hgdprs104894443
ensemblrs104894443
gopubmedrs104894443
geneviewrs104894443
scholarrs104894443
googlers104894443
pharmgkbrs104894443
gwascentralrs104894443
openSNPrs104894443
23andMers104894443
23andMe allrs104894443
SNP Nexus

SNPshotrs104894443
SNPdbers104894443
MSV3drs104894443
Max Magnitude0
OMIM600225
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894443(A;A)
Alt rs104894443(A;A)
Reference rs104894443(G;G)
Significance Pathogenic
Disease GTP cyclohydrolase I deficiency
Variation info
Gene GCH1
CLNDBN GTP cyclohydrolase I deficiency
Reversed 1
HGVS NC_000014.8:g.55310855C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009870.1,