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rs151231558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151231558(G;T)
Make rs151231558(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132378408
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs151231558
ebirs151231558
HLIrs151231558
Exacrs151231558
Varsomers151231558
Maprs151231558
PheGenIrs151231558
hapmaprs151231558
1000 genomesrs151231558
hgdprs151231558
ensemblrs151231558
gopubmedrs151231558
geneviewrs151231558
scholarrs151231558
googlers151231558
pharmgkbrs151231558
gwascentralrs151231558
openSNPrs151231558
23andMers151231558
23andMe allrs151231558
SNP Nexus

SNPshotrs151231558
SNPdbers151231558
MSV3drs151231558
GWAS Ctlgrs151231558
Max Magnitude0
ClinVar
Risk rs151231558(A,T;A,T)
Alt rs151231558(A,T;A,T)
Reference rs151231558(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131714100G>T
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022320.5,


[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.