rs386134221

Orientation

plus

Stabilized

plus

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

Make rs386134221(C;G)

Make rs386134221(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392568

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134221
dbSNP (classic)	rs386134221
ClinGen	rs386134221
ebi	rs386134221
HLI	rs386134221
Exac	rs386134221
Gnomad	rs386134221
Varsome	rs386134221
LitVar	rs386134221
Map	rs386134221
PheGenI	rs386134221
Biobank	rs386134221
1000 genomes	rs386134221
hgdp	rs386134221
ensembl	rs386134221
geneview	rs386134221
scholar	rs386134221
google	rs386134221
pharmgkb	rs386134221
gwascentral	rs386134221
openSNP	rs386134221
23andMe	rs386134221
SNPshot	rs386134221
SNPdbe	rs386134221
MSV3d	rs386134221
GWAS Ctlg	rs386134221

Max Magnitude

0

ClinVar
Risk	rs386134221(A;A) rs386134221(G;G)
Alt	rs386134221(A;A) rs386134221(G;G)
Reference	Rs386134221(C;C)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131728260C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022380.3,

[PMID 12210323] Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.