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rs398124350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124350(-;-)
Make rs398124350(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position183045422
GeneMCCC1
is asnp
is mentioned by
dbSNPrs398124350
ebirs398124350
HLIrs398124350
Exacrs398124350
Varsomers398124350
Maprs398124350
PheGenIrs398124350
hapmaprs398124350
1000 genomesrs398124350
hgdprs398124350
ensemblrs398124350
gopubmedrs398124350
geneviewrs398124350
scholarrs398124350
googlers398124350
pharmgkbrs398124350
gwascentralrs398124350
openSNPrs398124350
23andMers398124350
23andMe allrs398124350
SNP Nexus

SNPshotrs398124350
SNPdbers398124350
MSV3drs398124350
GWAS Ctlgrs398124350
Max Magnitude0
ClinVar
Risk rs398124350(;)
Alt rs398124350(;)
Reference rs398124350(G;G)
Significance 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.182763210delC
CLNSRC ClinVar
CLNACC RCV000081989.3, RCV000173882.1,