rs386134200

Orientation

plus

Stabilized

plus

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

Make rs386134200(A;A)

Make rs386134200(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132384302

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134200
dbSNP (classic)	rs386134200
ClinGen	rs386134200
ebi	rs386134200
HLI	rs386134200
Exac	rs386134200
Gnomad	rs386134200
Varsome	rs386134200
LitVar	rs386134200
Map	rs386134200
PheGenI	rs386134200
Biobank	rs386134200
1000 genomes	rs386134200
hgdp	rs386134200
ensembl	rs386134200
geneview	rs386134200
scholar	rs386134200
google	rs386134200
pharmgkb	rs386134200
gwascentral	rs386134200
openSNP	rs386134200
23andMe	rs386134200
SNPshot	rs386134200
SNPdbe	rs386134200
MSV3d	rs386134200
GWAS Ctlg	rs386134200

Max Magnitude

0

ClinVar
Risk	rs386134200(A;A) rs386134200(T;T)
Alt	rs386134200(A;A) rs386134200(T;T)
Reference	Rs386134200(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.131719994G>A
CLNSRC	ARUP SLC22A5
CLNACC	RCV000022334.2,

[PMID 12210323] Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.