rs386134212

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs386134212(C;T)

Make rs386134212(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132387065

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134212
dbSNP (classic)	rs386134212
ClinGen	rs386134212
ebi	rs386134212
HLI	rs386134212
Exac	rs386134212
Gnomad	rs386134212
Varsome	rs386134212
LitVar	rs386134212
Map	rs386134212
PheGenI	rs386134212
Biobank	rs386134212
1000 genomes	rs386134212
hgdp	rs386134212
ensembl	rs386134212
geneview	rs386134212
scholar	rs386134212
google	rs386134212
pharmgkb	rs386134212
gwascentral	rs386134212
openSNP	rs386134212
23andMe	rs386134212
SNPshot	rs386134212
SNPdbe	rs386134212
MSV3d	rs386134212
GWAS Ctlg	rs386134212

Max Magnitude

0

ClinVar
Risk	rs386134212(T;T)
Alt	rs386134212(T;T)
Reference	Rs386134212(C;C)
Significance	Untested
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131722757C>T
CLNSRC	ARUP SLC22A5
CLNACC	RCV000022357.2,

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