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rs119103213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119103213(A;C)
Make rs119103213(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position183041679
GeneMCCC1
is asnp
is mentioned by
dbSNPrs119103213
ebirs119103213
HLIrs119103213
Exacrs119103213
Varsomers119103213
Maprs119103213
PheGenIrs119103213
hapmaprs119103213
1000 genomesrs119103213
hgdprs119103213
ensemblrs119103213
gopubmedrs119103213
geneviewrs119103213
scholarrs119103213
googlers119103213
pharmgkbrs119103213
gwascentralrs119103213
openSNPrs119103213
23andMers119103213
23andMe allrs119103213
SNP Nexus

SNPshotrs119103213
SNPdbers119103213
MSV3drs119103213
GWAS Ctlgrs119103213
Merged fromRs28934881
Max Magnitude0
OMIM609010
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103213(C;C)
Alt rs119103213(C;C)
Reference rs119103213(A;A)
Significance Pathogenic
Disease 3 Methylcrotonyl-CoA carboxylase 1 deficiency not provided
Variation info
Gene MCCC1
CLNDBN 3 Methylcrotonyl-CoA carboxylase 1 deficiency not provided
Reversed 1
HGVS NC_000003.11:g.182759467T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002007.4, RCV000153465.2,