Rs104894445

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894445(A;A)
Make rs104894445(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position54845843
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894445
PheGenIrs104894445
nextbiors104894445
hapmaprs104894445
1000 genomesrs104894445
hgdprs104894445
ensemblrs104894445
gopubmedrs104894445
geneviewrs104894445
scholarrs104894445
googlers104894445
pharmgkbrs104894445
gwascentralrs104894445
openSNPrs104894445
23andMers104894445
23andMe allrs104894445
SNP Nexus

SNPshotrs104894445
SNPdbers104894445
MSV3drs104894445
Max Magnitude0
OMIM600225
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894445(A;A)
Alt rs104894445(A;A)
Reference rs104894445(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.55312561C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009873.3,