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rs119103215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103215(C;C)
Make rs119103215(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position183039093
GeneMCCC1
is asnp
is mentioned by
dbSNPrs119103215
ebirs119103215
HLIrs119103215
Exacrs119103215
Varsomers119103215
Maprs119103215
PheGenIrs119103215
hapmaprs119103215
1000 genomesrs119103215
hgdprs119103215
ensemblrs119103215
gopubmedrs119103215
geneviewrs119103215
scholarrs119103215
googlers119103215
pharmgkbrs119103215
gwascentralrs119103215
openSNPrs119103215
23andMers119103215
23andMe allrs119103215
SNP Nexus

SNPshotrs119103215
SNPdbers119103215
MSV3drs119103215
GWAS Ctlgrs119103215
Merged fromRs28934882
Max Magnitude0
OMIM609010
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103215(C;C)
Alt rs119103215(C;C)
Reference rs119103215(T;T)
Significance Pathogenic
Disease 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation info
Gene MCCC1
CLNDBN 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed 1
HGVS NC_000003.11:g.182756881A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002009.3,