rs386134225

Orientation

plus

Stabilized

plus

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

Make rs386134225(-;ACAC)

Make rs386134225(ACAC;ACAC)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132393784

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134225
dbSNP (classic)	rs386134225
ClinGen	rs386134225
ebi	rs386134225
HLI	rs386134225
Exac	rs386134225
Gnomad	rs386134225
Varsome	rs386134225
LitVar	rs386134225
Map	rs386134225
PheGenI	rs386134225
Biobank	rs386134225
1000 genomes	rs386134225
hgdp	rs386134225
ensembl	rs386134225
geneview	rs386134225
scholar	rs386134225
google	rs386134225
pharmgkb	rs386134225
gwascentral	rs386134225
openSNP	rs386134225
23andMe	rs386134225
SNPshot	rs386134225
SNPdbe	rs386134225
MSV3d	rs386134225
GWAS Ctlg	rs386134225

Max Magnitude

0

ClinVar
Risk	rs386134225(ACAC;ACAC)
Alt	rs386134225(ACAC;ACAC)
Reference	Rs386134225(-;-)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131729473_131729476dupACAC
CLNSRC	ClinVar
CLNACC	RCV000022387.3,

[PMID 17126586] Expanded newborn screening identifies maternal primary carnitine deficiency.