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

rs386134218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134218(A;G)
Make rs386134218(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392505
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134218
ebirs386134218
HLIrs386134218
Exacrs386134218
Varsomers386134218
Maprs386134218
PheGenIrs386134218
hapmaprs386134218
1000 genomesrs386134218
hgdprs386134218
ensemblrs386134218
gopubmedrs386134218
geneviewrs386134218
scholarrs386134218
googlers386134218
pharmgkbrs386134218
gwascentralrs386134218
openSNPrs386134218
23andMers386134218
23andMe allrs386134218
SNP Nexus

SNPshotrs386134218
SNPdbers386134218
MSV3drs386134218
GWAS Ctlgrs386134218
Max Magnitude0
ClinVar
Risk rs386134218(G;G)
Alt rs386134218(G;G)
Reference rs386134218(A;A)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728197A>G
CLNSRC ARUP SLC22A5
CLNACC RCV000022374.3,


[PMID 12408185] Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.