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rs386134217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134217(-;-)
Make rs386134217(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392467
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134217
ebirs386134217
HLIrs386134217
Exacrs386134217
Varsomers386134217
Maprs386134217
PheGenIrs386134217
hapmaprs386134217
1000 genomesrs386134217
hgdprs386134217
ensemblrs386134217
gopubmedrs386134217
geneviewrs386134217
scholarrs386134217
googlers386134217
pharmgkbrs386134217
gwascentralrs386134217
openSNPrs386134217
23andMers386134217
23andMe allrs386134217
SNP Nexus

SNPshotrs386134217
SNPdbers386134217
MSV3drs386134217
GWAS Ctlgrs386134217
Max Magnitude0
ClinVar
Risk rs386134217(;)
Alt rs386134217(;)
Reference rs386134217(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.131728161delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006787.5,


[PMID 10051646OA-icon.png] Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.