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rs386134224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134224(A;A)
Make rs386134224(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132393675
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134224
ebirs386134224
HLIrs386134224
Exacrs386134224
Varsomers386134224
Maprs386134224
PheGenIrs386134224
hapmaprs386134224
1000 genomesrs386134224
hgdprs386134224
ensemblrs386134224
gopubmedrs386134224
geneviewrs386134224
scholarrs386134224
googlers386134224
pharmgkbrs386134224
gwascentralrs386134224
openSNPrs386134224
23andMers386134224
23andMe allrs386134224
SNP Nexus

SNPshotrs386134224
SNPdbers386134224
MSV3drs386134224
GWAS Ctlgrs386134224
Max Magnitude0
ClinVar
Risk rs386134224(A;A)
Alt rs386134224(A;A)
Reference rs386134224(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131729367G>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022385.2,


[PMID 9916797] Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.