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rs121918608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918608(A;G)
Make rs121918608(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position34292375
GeneAHCY
is asnp
is mentioned by
dbSNPrs121918608
dbSNP (classic)rs121918608
ClinGenrs121918608
ebirs121918608
HLIrs121918608
Exacrs121918608
Gnomadrs121918608
Varsomers121918608
LitVarrs121918608
Maprs121918608
PheGenIrs121918608
Biobankrs121918608
1000 genomesrs121918608
hgdprs121918608
ensemblrs121918608
geneviewrs121918608
scholarrs121918608
googlers121918608
pharmgkbrs121918608
gwascentralrs121918608
openSNPrs121918608
23andMers121918608
SNPshotrs121918608
SNPdbers121918608
MSV3drs121918608
GWAS Ctlgrs121918608
Max Magnitude0
OMIM180960
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918608(G;G)
Alt rs121918608(G;G)
Reference Rs121918608(A;A)
Significance Pathogenic
Disease Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency not provided
Variation info
Gene AHCY
CLNDBN Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency not provided
Reversed 1
HGVS NC_000020.10:g.32880181T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013819.24, RCV000224240.1,