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rs587776760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776760(-;-)
Make rs587776760(-;A)
ReferenceGRCh38 38.1/142
Chromosome3
Position48898711
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs587776760
dbSNP (classic)rs587776760
ClinGenrs587776760
ebirs587776760
HLIrs587776760
Exacrs587776760
Gnomadrs587776760
Varsomers587776760
LitVarrs587776760
Maprs587776760
PheGenIrs587776760
Biobankrs587776760
1000 genomesrs587776760
hgdprs587776760
ensemblrs587776760
geneviewrs587776760
scholarrs587776760
googlers587776760
pharmgkbrs587776760
gwascentralrs587776760
openSNPrs587776760
23andMers587776760
SNPshotrs587776760
SNPdbers587776760
MSV3drs587776760
GWAS Ctlgrs587776760
Max Magnitude0
ClinVar
Risk rs587776760(-;-)
Alt rs587776760(-;-)
Reference Rs587776760(A;A)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency not provided
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.48936144delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012919.3, RCV000186166.1,