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rs730880265

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880265(A;A)
Make rs730880265(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position71652755
GeneMCCC2
is asnp
is mentioned by
dbSNPrs730880265
ebirs730880265
HLIrs730880265
Exacrs730880265
Varsomers730880265
Maprs730880265
PheGenIrs730880265
hapmaprs730880265
1000 genomesrs730880265
hgdprs730880265
ensemblrs730880265
gopubmedrs730880265
geneviewrs730880265
scholarrs730880265
googlers730880265
pharmgkbrs730880265
gwascentralrs730880265
openSNPrs730880265
23andMers730880265
23andMe allrs730880265
SNP Nexus

SNPshotrs730880265
SNPdbers730880265
MSV3drs730880265
GWAS Ctlgrs730880265
Max Magnitude0
ClinVar
Risk rs730880265(A;A)
Alt rs730880265(A;A)
Reference rs730880265(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.70948582G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002005.4,