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rs864309741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309741(-;G)
Make rs864309741(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position149579574
GeneMMADHC
is asnp
is mentioned by
dbSNPrs864309741
dbSNP (old)rs864309741
ClinGenrs864309741
ebirs864309741
HLIrs864309741
Exacrs864309741
Gnomadrs864309741
Varsomers864309741
Maprs864309741
PheGenIrs864309741
Biobankrs864309741
1000 genomesrs864309741
hgdprs864309741
ensemblrs864309741
gopubmedrs864309741
geneviewrs864309741
scholarrs864309741
googlers864309741
pharmgkbrs864309741
gwascentralrs864309741
openSNPrs864309741
23andMers864309741
23andMe allrs864309741
SNP Nexus

SNPshotrs864309741
SNPdbers864309741
MSV3drs864309741
GWAS Ctlgrs864309741
Max Magnitude0
ClinVar
Risk rs864309741(G;G)
Alt rs864309741(G;G)
Reference Rs864309741(-;-)
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.150436089dupC
CLNSRC
CLNACC RCV000203370.2,