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rs864309512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309512(-;CCG)
Make rs864309512(CCG;CCG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109561051
GeneMMAB
is asnp
is mentioned by
dbSNPrs864309512
dbSNP (old)rs864309512
ClinGenrs864309512
ebirs864309512
HLIrs864309512
Exacrs864309512
Gnomadrs864309512
Varsomers864309512
Maprs864309512
PheGenIrs864309512
Biobankrs864309512
1000 genomesrs864309512
hgdprs864309512
ensemblrs864309512
gopubmedrs864309512
geneviewrs864309512
scholarrs864309512
googlers864309512
pharmgkbrs864309512
gwascentralrs864309512
openSNPrs864309512
23andMers864309512
23andMe allrs864309512
SNP Nexus

SNPshotrs864309512
SNPdbers864309512
MSV3drs864309512
GWAS Ctlgrs864309512
Max Magnitude0
ClinVar
Risk rs864309512(CCG;CCG)
Alt rs864309512(CCG;CCG)
Reference Rs864309512(-;-)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type
Variation info
Gene MMAB
CLNDBN Methylmalonic aciduria cblB type
Reversed 1
HGVS NC_000012.11:g.109998857_109998859dupCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000202602.2,