rs72552732

Orientation

plus

Stabilized

plus

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

Make rs72552732(C;T)

Make rs72552732(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392484

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs72552732
dbSNP (classic)	rs72552732
ClinGen	rs72552732
ebi	rs72552732
HLI	rs72552732
Exac	rs72552732
Gnomad	rs72552732
Varsome	rs72552732
LitVar	rs72552732
Map	rs72552732
PheGenI	rs72552732
Biobank	rs72552732
1000 genomes	rs72552732
hgdp	rs72552732
ensembl	rs72552732
geneview	rs72552732
scholar	rs72552732
google	rs72552732
pharmgkb	rs72552732
gwascentral	rs72552732
openSNP	rs72552732
23andMe	rs72552732
SNPshot	rs72552732
SNPdbe	rs72552732
MSV3d	rs72552732
GWAS Ctlg	rs72552732

Max Magnitude

0

ClinVar
Risk	rs72552732(T;T)
Alt	rs72552732(T;T)
Reference	Rs72552732(C;C)
Significance	Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131728176C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022372.5,

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