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rs587776759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776759(-;-)
Make rs587776759(-;G)
Make rs587776759(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position48857719
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs587776759
ebirs587776759
HLIrs587776759
Exacrs587776759
Varsomers587776759
Maprs587776759
PheGenIrs587776759
hapmaprs587776759
1000 genomesrs587776759
hgdprs587776759
ensemblrs587776759
gopubmedrs587776759
geneviewrs587776759
scholarrs587776759
googlers587776759
pharmgkbrs587776759
gwascentralrs587776759
openSNPrs587776759
23andMers587776759
23andMe allrs587776759
SNP Nexus

SNPshotrs587776759
SNPdbers587776759
MSV3drs587776759
GWAS Ctlgrs587776759
Max Magnitude0
ClinVar
Risk rs587776759(G;G)
Alt rs587776759(G;G)
Reference rs587776759(;)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency
Reversed 0
HGVS NC_000003.11:g.48895152dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000012915.3,