rs144547521

Orientation

plus

Stabilized

plus

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

Make rs144547521(C;T)

Make rs144547521(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132390830

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs144547521
dbSNP (classic)	rs144547521
ClinGen	rs144547521
ebi	rs144547521
HLI	rs144547521
Exac	rs144547521
Gnomad	rs144547521
Varsome	rs144547521
LitVar	rs144547521
Map	rs144547521
PheGenI	rs144547521
Biobank	rs144547521
1000 genomes	rs144547521
hgdp	rs144547521
ensembl	rs144547521
geneview	rs144547521
scholar	rs144547521
google	rs144547521
pharmgkb	rs144547521
gwascentral	rs144547521
openSNP	rs144547521
23andMe	rs144547521
SNPshot	rs144547521
SNPdbe	rs144547521
MSV3d	rs144547521
GWAS Ctlg	rs144547521

Max Magnitude

0

ClinVar
Risk	rs144547521(T;T)
Alt	rs144547521(T;T)
Reference	Rs144547521(C;C)
Significance	Other
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131726522C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022365.8, RCV000224074.1,

[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.