rs377767447

Orientation

plus

Stabilized

plus

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

Make rs377767447(-;-)

Make rs377767447(-;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132370204

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs377767447
dbSNP (classic)	rs377767447
ClinGen	rs377767447
ebi	rs377767447
HLI	rs377767447
Exac	rs377767447
Gnomad	rs377767447
Varsome	rs377767447
LitVar	rs377767447
Map	rs377767447
PheGenI	rs377767447
Biobank	rs377767447
1000 genomes	rs377767447
hgdp	rs377767447
ensembl	rs377767447
geneview	rs377767447
scholar	rs377767447
google	rs377767447
pharmgkb	rs377767447
gwascentral	rs377767447
openSNP	rs377767447
23andMe	rs377767447
SNPshot	rs377767447
SNPdbe	rs377767447
MSV3d	rs377767447
GWAS Ctlg	rs377767447

Max Magnitude

0

ClinVar
Risk	rs377767447(-;-)
Alt	rs377767447(-;-)
Reference	Rs377767447(C;C)
Significance	Untested
Disease	Renal carnitine transport defect
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131705896delC
CLNSRC	ClinVar
CLNACC	RCV000022306.2,

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