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rs118204001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204001(G;G)
Make rs118204001(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position80274639
GeneMAT1A
is asnp
is mentioned by
dbSNPrs118204001
ebirs118204001
HLIrs118204001
Exacrs118204001
Varsomers118204001
Maprs118204001
PheGenIrs118204001
hapmaprs118204001
1000 genomesrs118204001
hgdprs118204001
ensemblrs118204001
gopubmedrs118204001
geneviewrs118204001
scholarrs118204001
googlers118204001
pharmgkbrs118204001
gwascentralrs118204001
openSNPrs118204001
23andMers118204001
23andMe allrs118204001
SNP Nexus

SNPshotrs118204001
SNPdbers118204001
MSV3drs118204001
GWAS Ctlgrs118204001
Max Magnitude0
OMIM610550
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204001(G;G)
Alt rs118204001(G;G)
Reference rs118204001(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.82034395A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001261.2,