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rs72558181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72558181(A;A)
Make rs72558181(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position80275177
GeneMAT1A
is asnp
is mentioned by
dbSNPrs72558181
ebirs72558181
HLIrs72558181
Exacrs72558181
Varsomers72558181
Maprs72558181
PheGenIrs72558181
hapmaprs72558181
1000 genomesrs72558181
hgdprs72558181
ensemblrs72558181
gopubmedrs72558181
geneviewrs72558181
scholarrs72558181
googlers72558181
pharmgkbrs72558181
gwascentralrs72558181
openSNPrs72558181
23andMers72558181
23andMe allrs72558181
SNP Nexus

SNPshotrs72558181
SNPdbers72558181
MSV3drs72558181
GWAS Ctlgrs72558181
Max Magnitude0
OMIM610550
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72558181(A;A)
Alt rs72558181(A;A)
Reference rs72558181(G;G)
Significance Pathogenic
Disease Methionine adenosyltransferase deficiency
Variation info
Gene MAT1A
CLNDBN Methionine adenosyltransferase deficiency, autosomal dominant
Reversed 1
HGVS NC_000010.10:g.82034933C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001267.2,