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rs386134225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386134225(-;-)
Make rs386134225(-;ACAC)
Make rs386134225(ACAC;ACAC)
ReferenceGRCh38 38.1/141
Chromosome5
Position132393784
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134225
ebirs386134225
HLIrs386134225
Exacrs386134225
Varsomers386134225
Maprs386134225
PheGenIrs386134225
hapmaprs386134225
1000 genomesrs386134225
hgdprs386134225
ensemblrs386134225
gopubmedrs386134225
geneviewrs386134225
scholarrs386134225
googlers386134225
pharmgkbrs386134225
gwascentralrs386134225
openSNPrs386134225
23andMers386134225
23andMe allrs386134225
SNP Nexus

SNPshotrs386134225
SNPdbers386134225
MSV3drs386134225
GWAS Ctlgrs386134225
Max Magnitude0
ClinVar
Risk rs386134225(ACAC;ACAC)
Alt rs386134225(ACAC;ACAC)
Reference rs386134225(;)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131729473_131729476dupACAC
CLNSRC ClinVar
CLNACC RCV000022387.3,


[PMID 17126586] Expanded newborn screening identifies maternal primary carnitine deficiency.