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rs757000253

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs757000253(A;A)
Make rs757000253(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49457977
GeneMUT
is asnp
is mentioned by
dbSNPrs757000253
ebirs757000253
HLIrs757000253
Exacrs757000253
Varsomers757000253
Maprs757000253
PheGenIrs757000253
hapmaprs757000253
1000 genomesrs757000253
hgdprs757000253
ensemblrs757000253
gopubmedrs757000253
geneviewrs757000253
scholarrs757000253
googlers757000253
pharmgkbrs757000253
gwascentralrs757000253
openSNPrs757000253
23andMers757000253
23andMe allrs757000253
SNP Nexus

SNPshotrs757000253
SNPdbers757000253
MSV3drs757000253
GWAS Ctlgrs757000253
Max Magnitude0
ClinVar
Risk rs757000253(A;A)
Alt rs757000253(A;A)
Reference rs757000253(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49425690T>A
CLNSRC
CLNACC RCV000235227.1,