Have questions? Visit https://www.reddit.com/r/SNPedia

rs60376624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60376624(C;G)
Make rs60376624(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392565
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs60376624
ebirs60376624
HLIrs60376624
Exacrs60376624
Varsomers60376624
Maprs60376624
PheGenIrs60376624
hapmaprs60376624
1000 genomesrs60376624
hgdprs60376624
ensemblrs60376624
gopubmedrs60376624
geneviewrs60376624
scholarrs60376624
googlers60376624
pharmgkbrs60376624
gwascentralrs60376624
openSNPrs60376624
23andMers60376624
23andMe allrs60376624
SNP Nexus

SNPshotrs60376624
SNPdbers60376624
MSV3drs60376624
GWAS Ctlgrs60376624
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs60376624(G;G)
Alt rs60376624(G;G)
Reference rs60376624(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728257C>G
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022379.5,



[PMID 10545605] Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.