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rs119103225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs119103225(A;G)
Make rs119103225(G;G)
ReferenceGRCh37 37.1/132
Chromosome5
Position71604413
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103225
dbSNP (classic)rs119103225
ClinGenrs119103225
ebirs119103225
HLIrs119103225
Exacrs119103225
Gnomadrs119103225
Varsomers119103225
LitVarrs119103225
Maprs119103225
PheGenIrs119103225
Biobankrs119103225
1000 genomesrs119103225
hgdprs119103225
ensemblrs119103225
geneviewrs119103225
scholarrs119103225
googlers119103225
pharmgkbrs119103225
gwascentralrs119103225
openSNPrs119103225
23andMers119103225
SNPshotrs119103225
SNPdbers119103225
MSV3drs119103225
GWAS Ctlgrs119103225
Max Magnitude0
OMIM609014
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119103225(G;G)
Alt rs119103225(G;G)
Reference Rs119103225(A;A)
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.70900240A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002003.3,