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rs118204006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204006(A;A)
Make rs118204006(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position80274599
GeneMAT1A
is asnp
is mentioned by
dbSNPrs118204006
ebirs118204006
HLIrs118204006
Exacrs118204006
Varsomers118204006
Maprs118204006
PheGenIrs118204006
hapmaprs118204006
1000 genomesrs118204006
hgdprs118204006
ensemblrs118204006
gopubmedrs118204006
geneviewrs118204006
scholarrs118204006
googlers118204006
pharmgkbrs118204006
gwascentralrs118204006
openSNPrs118204006
23andMers118204006
23andMe allrs118204006
SNP Nexus

SNPshotrs118204006
SNPdbers118204006
MSV3drs118204006
GWAS Ctlgrs118204006
Max Magnitude0
OMIM610550
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118204006(A;A)
Alt rs118204006(A;A)
Reference rs118204006(G;G)
Significance Pathogenic
Disease Methionine adenosyltransferase deficiency
Variation info
Gene MAT1A
CLNDBN Methionine adenosyltransferase deficiency, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.82034355C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001270.3,