rs151231558

Orientation

plus

Stabilized

plus

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

Make rs151231558(G;T)

Make rs151231558(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132378408

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs151231558
dbSNP (classic)	rs151231558
ClinGen	rs151231558
ebi	rs151231558
HLI	rs151231558
Exac	rs151231558
Gnomad	rs151231558
Varsome	rs151231558
LitVar	rs151231558
Map	rs151231558
PheGenI	rs151231558
Biobank	rs151231558
1000 genomes	rs151231558
hgdp	rs151231558
ensembl	rs151231558
geneview	rs151231558
scholar	rs151231558
google	rs151231558
pharmgkb	rs151231558
gwascentral	rs151231558
openSNP	rs151231558
23andMe	rs151231558
SNPshot	rs151231558
SNPdbe	rs151231558
MSV3d	rs151231558
GWAS Ctlg	rs151231558

Max Magnitude

0

ClinVar
Risk	rs151231558(A;A) rs151231558(T;T)
Alt	rs151231558(A;A) rs151231558(T;T)
Reference	Rs151231558(G;G)
Significance	Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131714100G>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022320.6,

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