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rs398124351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124351(C;C)
Make rs398124351(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position183039126
GeneMCCC1
is asnp
is mentioned by
dbSNPrs398124351
ebirs398124351
HLIrs398124351
Exacrs398124351
Varsomers398124351
Maprs398124351
PheGenIrs398124351
hapmaprs398124351
1000 genomesrs398124351
hgdprs398124351
ensemblrs398124351
gopubmedrs398124351
geneviewrs398124351
scholarrs398124351
googlers398124351
pharmgkbrs398124351
gwascentralrs398124351
openSNPrs398124351
23andMers398124351
23andMe allrs398124351
SNP Nexus

SNPshotrs398124351
SNPdbers398124351
MSV3drs398124351
GWAS Ctlgrs398124351
Max Magnitude0
ClinVar
Risk rs398124351(C;C)
Alt rs398124351(C;C)
Reference rs398124351(T;T)
Significance Probable-Pathogenic
Disease not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation info
Gene MCCC1
CLNDBN not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed 1
HGVS NC_000003.11:g.182756914A>G
CLNSRC ClinVar Emory University
CLNACC RCV000081990.3, RCV000174390.1,