rs377767443

Orientation

plus

Stabilized

plus

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

Make rs377767443(-;C)

Make rs377767443(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132369976

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs377767443
dbSNP (classic)	rs377767443
ClinGen	rs377767443
ebi	rs377767443
HLI	rs377767443
Exac	rs377767443
Gnomad	rs377767443
Varsome	rs377767443
LitVar	rs377767443
Map	rs377767443
PheGenI	rs377767443
Biobank	rs377767443
1000 genomes	rs377767443
hgdp	rs377767443
ensembl	rs377767443
geneview	rs377767443
scholar	rs377767443
google	rs377767443
pharmgkb	rs377767443
gwascentral	rs377767443
openSNP	rs377767443
23andMe	rs377767443
SNPshot	rs377767443
SNPdbe	rs377767443
MSV3d	rs377767443
GWAS Ctlg	rs377767443

Max Magnitude

0

ClinVar
Risk	rs377767443(C;C)
Alt	rs377767443(C;C)
Reference	Rs377767443(-;-)
Significance	Untested
Disease	Renal carnitine transport defect
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131705668dupC
CLNSRC	ClinVar
CLNACC	RCV000022292.2,

[PMID 9916797] Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.