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rs147741073

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs147741073(C;C)
Make rs147741073(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position183092477
GeneMCCC1
is asnp
is mentioned by
dbSNPrs147741073
ebirs147741073
HLIrs147741073
Exacrs147741073
Varsomers147741073
Maprs147741073
PheGenIrs147741073
hapmaprs147741073
1000 genomesrs147741073
hgdprs147741073
ensemblrs147741073
gopubmedrs147741073
geneviewrs147741073
scholarrs147741073
googlers147741073
pharmgkbrs147741073
gwascentralrs147741073
openSNPrs147741073
23andMers147741073
23andMe allrs147741073
SNP Nexus

SNPshotrs147741073
SNPdbers147741073
MSV3drs147741073
GWAS Ctlgrs147741073
Max Magnitude0
ClinVar
Risk rs147741073(A,C;A,C)
Alt rs147741073(A,C;A,C)
Reference rs147741073(T;T)
Significance Pathogenic
Disease 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation info
Gene MCCC1
CLNDBN 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.182810265T>A
CLNSRC
CLNACC RCV000177314.1,