rs386134224

Orientation

plus

Stabilized

plus

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

Make rs386134224(A;A)

Make rs386134224(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132393675

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134224
dbSNP (classic)	rs386134224
ClinGen	rs386134224
ebi	rs386134224
HLI	rs386134224
Exac	rs386134224
Gnomad	rs386134224
Varsome	rs386134224
LitVar	rs386134224
Map	rs386134224
PheGenI	rs386134224
Biobank	rs386134224
1000 genomes	rs386134224
hgdp	rs386134224
ensembl	rs386134224
geneview	rs386134224
scholar	rs386134224
google	rs386134224
pharmgkb	rs386134224
gwascentral	rs386134224
openSNP	rs386134224
23andMe	rs386134224
SNPshot	rs386134224
SNPdbe	rs386134224
MSV3d	rs386134224
GWAS Ctlg	rs386134224

Max Magnitude

0

ClinVar
Risk	rs386134224(A;A)
Alt	rs386134224(A;A)
Reference	Rs386134224(G;G)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131729367G>A
CLNSRC	ARUP SLC22A5
CLNACC	RCV000022385.2,

[PMID 9916797] Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.