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rs118204002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204002(A;A)
Make rs118204002(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position80285517
GeneMAT1A
is asnp
is mentioned by
dbSNPrs118204002
ebirs118204002
HLIrs118204002
Exacrs118204002
Varsomers118204002
Maprs118204002
PheGenIrs118204002
hapmaprs118204002
1000 genomesrs118204002
hgdprs118204002
ensemblrs118204002
gopubmedrs118204002
geneviewrs118204002
scholarrs118204002
googlers118204002
pharmgkbrs118204002
gwascentralrs118204002
openSNPrs118204002
23andMers118204002
23andMe allrs118204002
SNP Nexus

SNPshotrs118204002
SNPdbers118204002
MSV3drs118204002
GWAS Ctlgrs118204002
Max Magnitude0
OMIM610550
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204002(A,T;A,T)
Alt rs118204002(A,T;A,T)
Reference rs118204002(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.82045273G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001262.2,