rs11568514

Orientation

plus

Stabilized

plus

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

Make rs11568514(G;G)

Make rs11568514(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392510

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs11568514
dbSNP (classic)	rs11568514
ClinGen	rs11568514
ebi	rs11568514
HLI	rs11568514
Exac	rs11568514
Gnomad	rs11568514
Varsome	rs11568514
LitVar	rs11568514
Map	rs11568514
PheGenI	rs11568514
Biobank	rs11568514
1000 genomes	rs11568514
hgdp	rs11568514
ensembl	rs11568514
geneview	rs11568514
scholar	rs11568514
google	rs11568514
pharmgkb	rs11568514
gwascentral	rs11568514
openSNP	rs11568514
23andMe	rs11568514
SNPshot	rs11568514
SNPdbe	rs11568514
MSV3d	rs11568514
GWAS Ctlg	rs11568514

GMAF

0.0004591

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs11568514(G;G)
Alt	rs11568514(G;G)
Reference	Rs11568514(T;T)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided not specified
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not provided not specified
Reversed	0
HGVS	NC_000005.9:g.131728202T>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022376.3, RCV000080049.9, RCV000259090.1,

[PMID 14665638] Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.