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rs541208710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs541208710(A;C)
Make rs541208710(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position48884134
GeneSLC25A20
is asnp
is mentioned by
dbSNPrs541208710
ebirs541208710
HLIrs541208710
Exacrs541208710
Varsomers541208710
Maprs541208710
PheGenIrs541208710
hapmaprs541208710
1000 genomesrs541208710
hgdprs541208710
ensemblrs541208710
gopubmedrs541208710
geneviewrs541208710
scholarrs541208710
googlers541208710
pharmgkbrs541208710
gwascentralrs541208710
openSNPrs541208710
23andMers541208710
23andMe allrs541208710
SNP Nexus

SNPshotrs541208710
SNPdbers541208710
MSV3drs541208710
GWAS Ctlgrs541208710
Max Magnitude0
ClinVar
Risk rs541208710(C;C)
Alt rs541208710(C;C)
Reference rs541208710(A;A)
Significance Pathogenic
Disease Carnitine acylcarnitine translocase deficiency
Variation info
Gene SLC25A20
CLNDBN Carnitine acylcarnitine translocase deficiency
Reversed 0
HGVS NC_000003.11:g.48921567A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012920.3,