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rs397509361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCTTTAG;CTCTTTAG) 0 common in clinvar
Make rs397509361(-;-)
Make rs397509361(-;CTCTTTAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position149582217
GeneMMADHC
is asnp
is mentioned by
dbSNPrs397509361
ebirs397509361
HLIrs397509361
Exacrs397509361
Varsomers397509361
Maprs397509361
PheGenIrs397509361
hapmaprs397509361
1000 genomesrs397509361
hgdprs397509361
ensemblrs397509361
gopubmedrs397509361
geneviewrs397509361
scholarrs397509361
googlers397509361
pharmgkbrs397509361
gwascentralrs397509361
openSNPrs397509361
23andMers397509361
23andMe allrs397509361
SNP Nexus

SNPshotrs397509361
SNPdbers397509361
MSV3drs397509361
GWAS Ctlgrs397509361
Max Magnitude0
ClinVar
Risk rs397509361(;)
Alt rs397509361(;)
Reference rs397509361(CTCTTTAG;CTCTTTAG)
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.150438731_150438738delCTAAAGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000800.5, RCV000203371.1,