rs386134207

Orientation

plus

Stabilized

plus

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

Make rs386134207(A;A)

Make rs386134207(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132387025

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134207
dbSNP (classic)	rs386134207
ClinGen	rs386134207
ebi	rs386134207
HLI	rs386134207
Exac	rs386134207
Gnomad	rs386134207
Varsome	rs386134207
LitVar	rs386134207
Map	rs386134207
PheGenI	rs386134207
Biobank	rs386134207
1000 genomes	rs386134207
hgdp	rs386134207
ensembl	rs386134207
geneview	rs386134207
scholar	rs386134207
google	rs386134207
pharmgkb	rs386134207
gwascentral	rs386134207
openSNP	rs386134207
23andMe	rs386134207
SNPshot	rs386134207
SNPdbe	rs386134207
MSV3d	rs386134207
GWAS Ctlg	rs386134207

Max Magnitude

0

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.