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rs864309740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309740(-;G)
Make rs864309740(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position149582147
GeneMMADHC
is asnp
is mentioned by
dbSNPrs864309740
ClinGenrs864309740
ebirs864309740
HLIrs864309740
Exacrs864309740
Varsomers864309740
Maprs864309740
PheGenIrs864309740
hapmaprs864309740
1000 genomesrs864309740
hgdprs864309740
ensemblrs864309740
gopubmedrs864309740
geneviewrs864309740
scholarrs864309740
googlers864309740
pharmgkbrs864309740
gwascentralrs864309740
openSNPrs864309740
23andMers864309740
23andMe allrs864309740
SNP Nexus

SNPshotrs864309740
SNPdbers864309740
MSV3drs864309740
GWAS Ctlgrs864309740
Max Magnitude0
ClinVar
Risk rs864309740(G;G)
Alt rs864309740(G;G)
Reference Rs864309740(-;-)
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.150438662dupC
CLNSRC
CLNACC RCV000203409.2,