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rs864309743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309743(-;C)
Make rs864309743(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position149576459
GeneMMADHC
is asnp
is mentioned by
dbSNPrs864309743
ClinGenrs864309743
ebirs864309743
HLIrs864309743
Exacrs864309743
Varsomers864309743
Maprs864309743
PheGenIrs864309743
hapmaprs864309743
1000 genomesrs864309743
hgdprs864309743
ensemblrs864309743
gopubmedrs864309743
geneviewrs864309743
scholarrs864309743
googlers864309743
pharmgkbrs864309743
gwascentralrs864309743
openSNPrs864309743
23andMers864309743
23andMe allrs864309743
SNP Nexus

SNPshotrs864309743
SNPdbers864309743
MSV3drs864309743
GWAS Ctlgrs864309743
Max Magnitude0
ClinVar
Risk rs864309743(C;C)
Alt rs864309743(C;C)
Reference Rs864309743(-;-)
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.150432974dupG
CLNSRC
CLNACC RCV000203351.1,