Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776533(-;T)
Make rs587776533(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position71604361
GeneMCCC2
is asnp
is mentioned by
dbSNPrs587776533
dbSNP (classic)rs587776533
ClinGenrs587776533
ebirs587776533
HLIrs587776533
Exacrs587776533
Gnomadrs587776533
Varsomers587776533
LitVarrs587776533
Maprs587776533
PheGenIrs587776533
Biobankrs587776533
1000 genomesrs587776533
hgdprs587776533
ensemblrs587776533
geneviewrs587776533
scholarrs587776533
googlers587776533
pharmgkbrs587776533
gwascentralrs587776533
openSNPrs587776533
23andMers587776533
SNPshotrs587776533
SNPdbers587776533
MSV3drs587776533
GWAS Ctlgrs587776533
Max Magnitude0
ClinVar
Risk rs587776533(T;T)
Alt rs587776533(T;T)
Reference Rs587776533(-;-)
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.70900188dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001996.4,