rs386134218

Orientation

plus

Stabilized

plus

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

Make rs386134218(A;G)

Make rs386134218(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392505

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134218
dbSNP (classic)	rs386134218
ClinGen	rs386134218
ebi	rs386134218
HLI	rs386134218
Exac	rs386134218
Gnomad	rs386134218
Varsome	rs386134218
LitVar	rs386134218
Map	rs386134218
PheGenI	rs386134218
Biobank	rs386134218
1000 genomes	rs386134218
hgdp	rs386134218
ensembl	rs386134218
geneview	rs386134218
scholar	rs386134218
google	rs386134218
pharmgkb	rs386134218
gwascentral	rs386134218
openSNP	rs386134218
23andMe	rs386134218
SNPshot	rs386134218
SNPdbe	rs386134218
MSV3d	rs386134218
GWAS Ctlg	rs386134218

Max Magnitude

0

ClinVar
Risk	rs386134218(G;G)
Alt	rs386134218(G;G)
Reference	Rs386134218(A;A)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131728197A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022374.3, RCV000478826.1,

[PMID 12408185] Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.