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rs397509362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397509362(-;CTAGCAGAACCTTTATCA)
Make rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
ReferenceGRCh38 38.1/141
Chromosome2
Position149579478
GeneMMADHC
is asnp
is mentioned by
dbSNPrs397509362
dbSNP (old)rs397509362
ClinGenrs397509362
ebirs397509362
HLIrs397509362
Exacrs397509362
Gnomadrs397509362
Varsomers397509362
Maprs397509362
PheGenIrs397509362
Biobankrs397509362
1000 genomesrs397509362
hgdprs397509362
ensemblrs397509362
gopubmedrs397509362
geneviewrs397509362
scholarrs397509362
googlers397509362
pharmgkbrs397509362
gwascentralrs397509362
openSNPrs397509362
23andMers397509362
23andMe allrs397509362
SNP Nexus

SNPshotrs397509362
SNPdbers397509362
MSV3drs397509362
GWAS Ctlgrs397509362
Max Magnitude0
ClinVar
Risk rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
Alt rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
Reference Rs397509362(-;-)
Significance Pathogenic
Disease Methylmalonic aciduria Methylmalonic acidemia with homocystinuria cblD
Variation info
Gene MMADHC
CLNDBN Methylmalonic aciduria, cblD type, variant 2 Methylmalonic acidemia with homocystinuria cblD
Reversed 1
HGVS NC_000002.11:g.150435993_150436010dup18
CLNSRC OMIM Allelic Variant
CLNACC RCV000000802.5, RCV000203341.1,