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rs119103223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103223(C;C)
Make rs119103223(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position71632185
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103223
ebirs119103223
HLIrs119103223
Exacrs119103223
Varsomers119103223
Maprs119103223
PheGenIrs119103223
hapmaprs119103223
1000 genomesrs119103223
hgdprs119103223
ensemblrs119103223
gopubmedrs119103223
geneviewrs119103223
scholarrs119103223
googlers119103223
pharmgkbrs119103223
gwascentralrs119103223
openSNPrs119103223
23andMers119103223
23andMe allrs119103223
SNP Nexus

SNPshotrs119103223
SNPdbers119103223
MSV3drs119103223
GWAS Ctlgrs119103223
Max Magnitude0
OMIM609014
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119103223(C;C)
Alt rs119103223(C;C)
Reference rs119103223(G;G)
Significance Pathogenic
Disease 3-methylcrotonyl CoA carboxylase 2 deficiency
Variation info
Gene MCCC2
CLNDBN 3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed 0
HGVS NC_000005.9:g.70928012G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002001.3,