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

rs386134195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs386134195(-;-)
Make rs386134195(-;TG)
ReferenceGRCh38 38.1/141
Chromosome5
Position132378442
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134195
ebirs386134195
HLIrs386134195
Exacrs386134195
Varsomers386134195
Maprs386134195
PheGenIrs386134195
hapmaprs386134195
1000 genomesrs386134195
hgdprs386134195
ensemblrs386134195
gopubmedrs386134195
geneviewrs386134195
scholarrs386134195
googlers386134195
pharmgkbrs386134195
gwascentralrs386134195
openSNPrs386134195
23andMers386134195
23andMe allrs386134195
SNP Nexus

SNPshotrs386134195
SNPdbers386134195
MSV3drs386134195
GWAS Ctlgrs386134195
Max Magnitude0
ClinVar
Risk rs386134195(;)
Alt rs386134195(;)
Reference rs386134195(GT;GT)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131714134_131714135delTG
CLNSRC ClinVar
CLNACC RCV000022324.3, RCV000186159.1,


[PMID 15714519] Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.