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rs119103220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs119103220(A;A)
Make rs119103220(A;G)
ReferenceGRCh37 37.1/132
Chromosome5
Position70898413
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103220
ebirs119103220
HLIrs119103220
Exacrs119103220
Varsomers119103220
Maprs119103220
PheGenIrs119103220
hapmaprs119103220
1000 genomesrs119103220
hgdprs119103220
ensemblrs119103220
gopubmedrs119103220
geneviewrs119103220
scholarrs119103220
googlers119103220
pharmgkbrs119103220
gwascentralrs119103220
openSNPrs119103220
23andMers119103220
23andMe allrs119103220
SNP Nexus

SNPshotrs119103220
SNPdbers119103220
MSV3drs119103220
GWAS Ctlgrs119103220
Max Magnitude0
OMIM609014
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103220(A;A)
Alt rs119103220(A;A)
Reference rs119103220(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.70898413G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001998.3,