rs72552733

Orientation

plus

Stabilized

plus

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

Make rs72552733(G;T)

Make rs72552733(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392501

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs72552733
dbSNP (classic)	rs72552733
ClinGen	rs72552733
ebi	rs72552733
HLI	rs72552733
Exac	rs72552733
Gnomad	rs72552733
Varsome	rs72552733
LitVar	rs72552733
Map	rs72552733
PheGenI	rs72552733
Biobank	rs72552733
1000 genomes	rs72552733
hgdp	rs72552733
ensembl	rs72552733
geneview	rs72552733
scholar	rs72552733
google	rs72552733
pharmgkb	rs72552733
gwascentral	rs72552733
openSNP	rs72552733
23andMe	rs72552733
SNPshot	rs72552733
SNPdbe	rs72552733
MSV3d	rs72552733
GWAS Ctlg	rs72552733

Max Magnitude

0

ClinVar
Risk	rs72552733(T;T)
Alt	rs72552733(T;T)
Reference	Rs72552733(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.131728193G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022373.2,

[PMID 10612840] Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.