rs386134213

Orientation

plus

Stabilized

plus

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

Make rs386134213(-;-)

Make rs386134213(-;A)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132388978

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134213
dbSNP (classic)	rs386134213
ClinGen	rs386134213
ebi	rs386134213
HLI	rs386134213
Exac	rs386134213
Gnomad	rs386134213
Varsome	rs386134213
LitVar	rs386134213
Map	rs386134213
PheGenI	rs386134213
Biobank	rs386134213
1000 genomes	rs386134213
hgdp	rs386134213
ensembl	rs386134213
geneview	rs386134213
scholar	rs386134213
google	rs386134213
pharmgkb	rs386134213
gwascentral	rs386134213
openSNP	rs386134213
23andMe	rs386134213
SNPshot	rs386134213
SNPdbe	rs386134213
MSV3d	rs386134213
GWAS Ctlg	rs386134213

Max Magnitude

0

ClinVar
Risk	rs386134213(-;-)
Alt	rs386134213(-;-)
Reference	Rs386134213(A;A)
Significance	Untested
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131724670delA
CLNSRC	ClinVar
CLNACC	RCV000022359.2,

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