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rs119103222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs119103222(C;C)
Make rs119103222(C;T)
ReferenceGRCh37 37.1/132
Chromosome5
Position70898448
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103222
ebirs119103222
HLIrs119103222
Exacrs119103222
Varsomers119103222
Maprs119103222
PheGenIrs119103222
hapmaprs119103222
1000 genomesrs119103222
hgdprs119103222
ensemblrs119103222
gopubmedrs119103222
geneviewrs119103222
scholarrs119103222
googlers119103222
pharmgkbrs119103222
gwascentralrs119103222
openSNPrs119103222
23andMers119103222
23andMe allrs119103222
SNP Nexus

SNPshotrs119103222
SNPdbers119103222
MSV3drs119103222
GWAS Ctlgrs119103222
Max Magnitude0
OMIM609014
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103222(C;C)
Alt rs119103222(C;C)
Reference rs119103222(T;T)
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.70898448T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002000.3,