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rs118204003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204003(C;T)
Make rs118204003(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position80274535
GeneMAT1A
is asnp
is mentioned by
dbSNPrs118204003
ebirs118204003
HLIrs118204003
Exacrs118204003
Varsomers118204003
Maprs118204003
PheGenIrs118204003
hapmaprs118204003
1000 genomesrs118204003
hgdprs118204003
ensemblrs118204003
gopubmedrs118204003
geneviewrs118204003
scholarrs118204003
googlers118204003
pharmgkbrs118204003
gwascentralrs118204003
openSNPrs118204003
23andMers118204003
23andMe allrs118204003
SNP Nexus

SNPshotrs118204003
SNPdbers118204003
MSV3drs118204003
GWAS Ctlgrs118204003
Max Magnitude0
OMIM610550
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204003(T;T)
Alt rs118204003(T;T)
Reference rs118204003(C;C)
Significance Pathogenic
Disease Methionine adenosyltransferase deficiency
Variation info
Gene MAT1A
CLNDBN Methionine adenosyltransferase deficiency, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.82034291G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001263.3,