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rs763293192

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763293192(C;T)
Make rs763293192(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position71643827
GeneMCCC2
is asnp
is mentioned by
dbSNPrs763293192
ebirs763293192
HLIrs763293192
Exacrs763293192
Varsomers763293192
Maprs763293192
PheGenIrs763293192
hapmaprs763293192
1000 genomesrs763293192
hgdprs763293192
ensemblrs763293192
gopubmedrs763293192
geneviewrs763293192
scholarrs763293192
googlers763293192
pharmgkbrs763293192
gwascentralrs763293192
openSNPrs763293192
23andMers763293192
23andMe allrs763293192
SNP Nexus

SNPshotrs763293192
SNPdbers763293192
MSV3drs763293192
GWAS Ctlgrs763293192
Max Magnitude0
ClinVar
Risk rs763293192(T;T)
Alt rs763293192(T;T)
Reference rs763293192(C;C)
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.70939654C>T
CLNSRC
CLNACC RCV000174397.1,