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rs118204005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204005(C;T)
Make rs118204005(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position80275178
GeneMAT1A
is asnp
is mentioned by
dbSNPrs118204005
ebirs118204005
HLIrs118204005
Exacrs118204005
Varsomers118204005
Maprs118204005
PheGenIrs118204005
hapmaprs118204005
1000 genomesrs118204005
hgdprs118204005
ensemblrs118204005
gopubmedrs118204005
geneviewrs118204005
scholarrs118204005
googlers118204005
pharmgkbrs118204005
gwascentralrs118204005
openSNPrs118204005
23andMers118204005
23andMe allrs118204005
SNP Nexus

SNPshotrs118204005
SNPdbers118204005
MSV3drs118204005
GWAS Ctlgrs118204005
Max Magnitude0
OMIM610550
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118204005(T;T)
Alt rs118204005(T;T)
Reference rs118204005(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.82034934G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001269.2,