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rs587777287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777287(A;A)
Make rs587777287(A;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position48892074
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs587777287
ebirs587777287
HLIrs587777287
Exacrs587777287
Varsomers587777287
Maprs587777287
PheGenIrs587777287
hapmaprs587777287
1000 genomesrs587777287
hgdprs587777287
ensemblrs587777287
gopubmedrs587777287
geneviewrs587777287
scholarrs587777287
googlers587777287
pharmgkbrs587777287
gwascentralrs587777287
openSNPrs587777287
23andMers587777287
23andMe allrs587777287
SNP Nexus

SNPshotrs587777287
SNPdbers587777287
MSV3drs587777287
GWAS Ctlgrs587777287
Max Magnitude0
ClinVar
Risk rs587777287(A,C;A,C)
Alt rs587777287(A,C;A,C)
Reference rs587777287(T;T)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency
Reversed 0
HGVS NC_000003.11:g.48929507T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114403.2,