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rs587777286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777286(C;T)
Make rs587777286(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position48859587
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs587777286
ebirs587777286
HLIrs587777286
Exacrs587777286
Varsomers587777286
Maprs587777286
PheGenIrs587777286
hapmaprs587777286
1000 genomesrs587777286
hgdprs587777286
ensemblrs587777286
gopubmedrs587777286
geneviewrs587777286
scholarrs587777286
googlers587777286
pharmgkbrs587777286
gwascentralrs587777286
openSNPrs587777286
23andMers587777286
23andMe allrs587777286
SNP Nexus

SNPshotrs587777286
SNPdbers587777286
MSV3drs587777286
GWAS Ctlgrs587777286
Max Magnitude0
ClinVar
Risk rs587777286(C,T;C,T)
Alt rs587777286(C,T;C,T)
Reference rs587777286(G;G)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency
Reversed 1
HGVS NC_000003.11:g.48897020C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114402.2,