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rs397509363

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397509363(-;-)
Make rs397509363(-;A)
Make rs397509363(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position149576495
GeneMMADHC
is asnp
is mentioned by
dbSNPrs397509363
ebirs397509363
HLIrs397509363
Exacrs397509363
Varsomers397509363
Maprs397509363
PheGenIrs397509363
hapmaprs397509363
1000 genomesrs397509363
hgdprs397509363
ensemblrs397509363
gopubmedrs397509363
geneviewrs397509363
scholarrs397509363
googlers397509363
pharmgkbrs397509363
gwascentralrs397509363
openSNPrs397509363
23andMers397509363
23andMe allrs397509363
SNP Nexus

SNPshotrs397509363
SNPdbers397509363
MSV3drs397509363
GWAS Ctlgrs397509363
Max Magnitude0
ClinVar
Risk rs397509363(A;A)
Alt rs397509363(A;A)
Reference rs397509363(;)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria cblD
Variation info
Gene MMADHC
CLNDBN Methylmalonic acidemia with homocystinuria cblD
Reversed 1
HGVS NC_000002.11:g.150433010dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000804.3,