rs72552734

Orientation

plus

Stabilized

plus

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

Make rs72552734(A;A)

Make rs72552734(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392519

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs72552734
dbSNP (classic)	rs72552734
ClinGen	rs72552734
ebi	rs72552734
HLI	rs72552734
Exac	rs72552734
Gnomad	rs72552734
Varsome	rs72552734
LitVar	rs72552734
Map	rs72552734
PheGenI	rs72552734
Biobank	rs72552734
1000 genomes	rs72552734
hgdp	rs72552734
ensembl	rs72552734
geneview	rs72552734
scholar	rs72552734
google	rs72552734
pharmgkb	rs72552734
gwascentral	rs72552734
openSNP	rs72552734
23andMe	rs72552734
SNPshot	rs72552734
SNPdbe	rs72552734
MSV3d	rs72552734
GWAS Ctlg	rs72552734

Max Magnitude

0

ClinVar
Risk	rs72552734(A;A)
Alt	rs72552734(A;A)
Reference	Rs72552734(G;G)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect not specified
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not specified
Reversed	0
HGVS	NC_000005.9:g.131728211G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022377.3, RCV000153964.4,

[PMID 10679939] A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.