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rs119103224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119103224(A;G)
Make rs119103224(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position71649189
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103224
ebirs119103224
HLIrs119103224
Exacrs119103224
Varsomers119103224
Maprs119103224
PheGenIrs119103224
hapmaprs119103224
1000 genomesrs119103224
hgdprs119103224
ensemblrs119103224
gopubmedrs119103224
geneviewrs119103224
scholarrs119103224
googlers119103224
pharmgkbrs119103224
gwascentralrs119103224
openSNPrs119103224
23andMers119103224
23andMe allrs119103224
SNP Nexus

SNPshotrs119103224
SNPdbers119103224
MSV3drs119103224
GWAS Ctlgrs119103224
Max Magnitude0
OMIM609014
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119103224(G,T;G,T)
Alt rs119103224(G,T;G,T)
Reference rs119103224(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.70945016A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002002.4,