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rs119103218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103218(G;G)
Make rs119103218(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position183037432
GeneMCCC1
is asnp
is mentioned by
dbSNPrs119103218
ebirs119103218
HLIrs119103218
Exacrs119103218
Varsomers119103218
Maprs119103218
PheGenIrs119103218
hapmaprs119103218
1000 genomesrs119103218
hgdprs119103218
ensemblrs119103218
gopubmedrs119103218
geneviewrs119103218
scholarrs119103218
googlers119103218
pharmgkbrs119103218
gwascentralrs119103218
openSNPrs119103218
23andMers119103218
23andMe allrs119103218
SNP Nexus

SNPshotrs119103218
SNPdbers119103218
MSV3drs119103218
GWAS Ctlgrs119103218
Max Magnitude0
OMIM609010
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119103218(G;G)
Alt rs119103218(G;G)
Reference rs119103218(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.182755220A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002012.3,