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rs398124372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124372(C;G)
Make rs398124372(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome5
Position70895584
GeneMCCC2
is asnp
is mentioned by
dbSNPrs398124372
ebirs398124372
HLIrs398124372
Exacrs398124372
Varsomers398124372
Maprs398124372
PheGenIrs398124372
hapmaprs398124372
1000 genomesrs398124372
hgdprs398124372
ensemblrs398124372
gopubmedrs398124372
geneviewrs398124372
scholarrs398124372
googlers398124372
pharmgkbrs398124372
gwascentralrs398124372
openSNPrs398124372
23andMers398124372
23andMe allrs398124372
SNP Nexus

SNPshotrs398124372
SNPdbers398124372
MSV3drs398124372
GWAS Ctlgrs398124372
Max Magnitude0
ClinVar
Risk rs398124372(G;G)
Alt rs398124372(G;G)
Reference rs398124372(C;C)
Significance Pathogenic
Disease not provided 3-methylcrotonyl CoA carboxylase 2 deficiency
Variation info
Gene MCCC2
CLNDBN not provided 3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed 0
HGVS NC_000005.9:g.70895584C>G
CLNSRC ClinVar Emory University
CLNACC RCV000082096.3, RCV000178333.1,