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rs118204004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204004(C;C)
Make rs118204004(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position80275054
GeneMAT1A
is asnp
is mentioned by
dbSNPrs118204004
ebirs118204004
HLIrs118204004
Exacrs118204004
Varsomers118204004
Maprs118204004
PheGenIrs118204004
hapmaprs118204004
1000 genomesrs118204004
hgdprs118204004
ensemblrs118204004
gopubmedrs118204004
geneviewrs118204004
scholarrs118204004
googlers118204004
pharmgkbrs118204004
gwascentralrs118204004
openSNPrs118204004
23andMers118204004
23andMe allrs118204004
SNP Nexus

SNPshotrs118204004
SNPdbers118204004
MSV3drs118204004
GWAS Ctlgrs118204004
Max Magnitude0
OMIM610550
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204004(C;C)
Alt rs118204004(C;C)
Reference rs118204004(T;T)
Significance Pathogenic
Disease Methionine adenosyltransferase deficiency
Variation info
Gene MAT1A
CLNDBN Methionine adenosyltransferase deficiency, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.82034810A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001264.2,