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rs386134207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134207(A;A)
Make rs386134207(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387025
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134207
ebirs386134207
HLIrs386134207
Exacrs386134207
Varsomers386134207
Maprs386134207
PheGenIrs386134207
hapmaprs386134207
1000 genomesrs386134207
hgdprs386134207
ensemblrs386134207
gopubmedrs386134207
geneviewrs386134207
scholarrs386134207
googlers386134207
pharmgkbrs386134207
gwascentralrs386134207
openSNPrs386134207
23andMers386134207
23andMe allrs386134207
SNP Nexus

SNPshotrs386134207
SNPdbers386134207
MSV3drs386134207
GWAS Ctlgrs386134207
Max Magnitude0
ClinVar
Risk rs386134207(A;A)
Alt rs386134207(A;A)
Reference rs386134207(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.131722717G>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022350.2,


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