rs72552726

Orientation

plus

Stabilized

plus

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

Make rs72552726(G;T)

Make rs72552726(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132370220

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs72552726
dbSNP (classic)	rs72552726
ClinGen	rs72552726
ebi	rs72552726
HLI	rs72552726
Exac	rs72552726
Gnomad	rs72552726
Varsome	rs72552726
LitVar	rs72552726
Map	rs72552726
PheGenI	rs72552726
Biobank	rs72552726
1000 genomes	rs72552726
hgdp	rs72552726
ensembl	rs72552726
geneview	rs72552726
scholar	rs72552726
google	rs72552726
pharmgkb	rs72552726
gwascentral	rs72552726
openSNP	rs72552726
23andMe	rs72552726
SNPshot	rs72552726
SNPdbe	rs72552726
MSV3d	rs72552726
GWAS Ctlg	rs72552726

Max Magnitude

0

ClinVar
Risk	rs72552726(T;T)
Alt	rs72552726(T;T)
Reference	Rs72552726(G;G)
Significance	Other
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131705912G>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022308.6, RCV000186132.3,

[PMID 15617188] Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.