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rs121918607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918607(A;A)
Make rs121918607(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position34292467
GeneAHCY
is asnp
is mentioned by
dbSNPrs121918607
ebirs121918607
HLIrs121918607
Exacrs121918607
Varsomers121918607
Maprs121918607
PheGenIrs121918607
hapmaprs121918607
1000 genomesrs121918607
hgdprs121918607
ensemblrs121918607
gopubmedrs121918607
geneviewrs121918607
scholarrs121918607
googlers121918607
pharmgkbrs121918607
gwascentralrs121918607
openSNPrs121918607
23andMers121918607
23andMe allrs121918607
SNP Nexus

SNPshotrs121918607
SNPdbers121918607
MSV3drs121918607
GWAS Ctlgrs121918607
Max Magnitude0
OMIM180960
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918607(A;A)
Alt rs121918607(A;A)
Reference rs121918607(G;G)
Significance Pathogenic
Disease Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
Variation info
Gene AHCY
CLNDBN Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
Reversed 1
HGVS NC_000020.10:g.32880273C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013818.18,