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rs119103226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103226(G;T)
Make rs119103226(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position71634977
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103226
ebirs119103226
HLIrs119103226
Exacrs119103226
Varsomers119103226
Maprs119103226
PheGenIrs119103226
hapmaprs119103226
1000 genomesrs119103226
hgdprs119103226
ensemblrs119103226
gopubmedrs119103226
geneviewrs119103226
scholarrs119103226
googlers119103226
pharmgkbrs119103226
gwascentralrs119103226
openSNPrs119103226
23andMers119103226
23andMe allrs119103226
SNP Nexus

SNPshotrs119103226
SNPdbers119103226
MSV3drs119103226
GWAS Ctlgrs119103226
GMAF0.0004591
Max Magnitude0
OMIM609014
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119103226(T;T)
Alt rs119103226(T;T)
Reference rs119103226(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.70930804G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002004.3,