rs386134195

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GT;GT)	0	common in clinvar
(I;I)	0	common genotype
(TG;TG)	0	common in clinvar

Make rs386134195(-;-)

Make rs386134195(-;TG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132378442

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs386134195
dbSNP (classic)	rs386134195
ClinGen	rs386134195
ebi	rs386134195
HLI	rs386134195
Exac	rs386134195
Gnomad	rs386134195
Varsome	rs386134195
LitVar	rs386134195
Map	rs386134195
PheGenI	rs386134195
Biobank	rs386134195
1000 genomes	rs386134195
hgdp	rs386134195
ensembl	rs386134195
geneview	rs386134195
scholar	rs386134195
google	rs386134195
pharmgkb	rs386134195
gwascentral	rs386134195
openSNP	rs386134195
23andMe	rs386134195
SNPshot	rs386134195
SNPdbe	rs386134195
MSV3d	rs386134195
GWAS Ctlg	rs386134195

Max Magnitude

0

ClinVar
Risk	rs386134195(-;-)
Alt	rs386134195(-;-)
Reference	Rs386134195(GT;GT)
Significance	Pathogenic
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.131714134_131714135delTG
CLNSRC	ClinVar
CLNACC	RCV000022324.3, RCV000186159.1,

[PMID 15714519] Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.