rs386134202

Orientation

plus

Stabilized

plus

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

Make rs386134202(A;A)

Make rs386134202(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132385443

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134202
dbSNP (classic)	rs386134202
ClinGen	rs386134202
ebi	rs386134202
HLI	rs386134202
Exac	rs386134202
Gnomad	rs386134202
Varsome	rs386134202
LitVar	rs386134202
Map	rs386134202
PheGenI	rs386134202
Biobank	rs386134202
1000 genomes	rs386134202
hgdp	rs386134202
ensembl	rs386134202
geneview	rs386134202
scholar	rs386134202
google	rs386134202
pharmgkb	rs386134202
gwascentral	rs386134202
openSNP	rs386134202
23andMe	rs386134202
SNPshot	rs386134202
SNPdbe	rs386134202
MSV3d	rs386134202
GWAS Ctlg	rs386134202

Max Magnitude

0

ClinVar
Risk	rs386134202(A;A)
Alt	rs386134202(A;A)
Reference	Rs386134202(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.131721135G>A
CLNSRC	ARUP SLC22A5
CLNACC	RCV000022343.2,

[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.