Have questions? Visit https://www.reddit.com/r/SNPedia

rs397509364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGT;GAGT) 0 common in clinvar
Make rs397509364(-;-)
Make rs397509364(-;GAGT)
ReferenceGRCh38 38.1/141
Chromosome2
Position149571079
GeneMMADHC
is asnp
is mentioned by
dbSNPrs397509364
ebirs397509364
HLIrs397509364
Exacrs397509364
Varsomers397509364
Maprs397509364
PheGenIrs397509364
hapmaprs397509364
1000 genomesrs397509364
hgdprs397509364
ensemblrs397509364
gopubmedrs397509364
geneviewrs397509364
scholarrs397509364
googlers397509364
pharmgkbrs397509364
gwascentralrs397509364
openSNPrs397509364
23andMers397509364
23andMe allrs397509364
SNP Nexus

SNPshotrs397509364
SNPdbers397509364
MSV3drs397509364
GWAS Ctlgrs397509364
Max Magnitude0
ClinVar
Risk rs397509364(;)
Alt rs397509364(;)
Reference rs397509364(GAGT;GAGT)
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.150427593_150427596delACTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000805.3,