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rs752866557

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752866557(C;T)
Make rs752866557(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
is asnp
is mentioned by
dbSNPrs752866557
ebirs752866557
HLIrs752866557
Exacrs752866557
Varsomers752866557
Maprs752866557
PheGenIrs752866557
hapmaprs752866557
1000 genomesrs752866557
hgdprs752866557
ensemblrs752866557
gopubmedrs752866557
geneviewrs752866557
scholarrs752866557
googlers752866557
pharmgkbrs752866557
gwascentralrs752866557
openSNPrs752866557
23andMers752866557
23andMe allrs752866557
SNP Nexus

SNPshotrs752866557
SNPdbers752866557
MSV3drs752866557
GWAS Ctlgrs752866557
Max Magnitude0
ClinVar
Risk rs752866557(T;T)
Alt rs752866557(T;T)
Reference rs752866557(C;C)
Significance Pathogenic
Disease 3-methylcrotonyl CoA carboxylase 2 deficiency not provided
Variation info
Gene MCCC2
CLNDBN 3-methylcrotonyl CoA carboxylase 2 deficiency not provided
Reversed 0
HGVS NC_000005.9:g.70900189C>G; NC_000005.9:g.70900189C>T
CLNSRC
CLNACC RCV000179522.1, RCV000185998.1,