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rs864309742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309742(-;AT)
Make rs864309742(AT;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position149582220
GeneMMADHC
is asnp
is mentioned by
dbSNPrs864309742
dbSNP (old)rs864309742
ClinGenrs864309742
ebirs864309742
HLIrs864309742
Exacrs864309742
Varsomers864309742
Maprs864309742
PheGenIrs864309742
Biobankrs864309742
1000 genomesrs864309742
hgdprs864309742
ensemblrs864309742
gopubmedrs864309742
geneviewrs864309742
scholarrs864309742
googlers864309742
pharmgkbrs864309742
gwascentralrs864309742
openSNPrs864309742
23andMers864309742
23andMe allrs864309742
SNP Nexus

SNPshotrs864309742
SNPdbers864309742
MSV3drs864309742
GWAS Ctlgrs864309742
Max Magnitude0
ClinVar
Risk rs864309742(AT;AT)
Alt rs864309742(AT;AT)
Reference Rs864309742(-;-)
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.150438734_150438735insAT
CLNSRC
CLNACC RCV000203311.1,