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rs119103216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103216(C;T)
Make rs119103216(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position183034068
GeneMCCC1
is asnp
is mentioned by
dbSNPrs119103216
ebirs119103216
HLIrs119103216
Exacrs119103216
Varsomers119103216
Maprs119103216
PheGenIrs119103216
hapmaprs119103216
1000 genomesrs119103216
hgdprs119103216
ensemblrs119103216
gopubmedrs119103216
geneviewrs119103216
scholarrs119103216
googlers119103216
pharmgkbrs119103216
gwascentralrs119103216
openSNPrs119103216
23andMers119103216
23andMe allrs119103216
SNP Nexus

SNPshotrs119103216
SNPdbers119103216
MSV3drs119103216
GWAS Ctlgrs119103216
Max Magnitude0
OMIM609010
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103216(T;T)
Alt rs119103216(T;T)
Reference rs119103216(C;C)
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.182751856G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002010.3,