rs1057516797

Orientation

plus

Stabilized

plus

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

Make rs1057516797(-;GACGCCG)

Make rs1057516797(GACGCCG;GACGCCG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132370138

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057516797
dbSNP (classic)	rs1057516797
ClinGen	rs1057516797
ebi	rs1057516797
HLI	rs1057516797
Exac	rs1057516797
Gnomad	rs1057516797
Varsome	rs1057516797
LitVar	rs1057516797
Map	rs1057516797
PheGenI	rs1057516797
Biobank	rs1057516797
1000 genomes	rs1057516797
hgdp	rs1057516797
ensembl	rs1057516797
geneview	rs1057516797
scholar	rs1057516797
google	rs1057516797
pharmgkb	rs1057516797
gwascentral	rs1057516797
openSNP	rs1057516797
23andMe	rs1057516797
SNPshot	rs1057516797
SNPdbe	rs1057516797
MSV3d	rs1057516797
GWAS Ctlg	rs1057516797

Max Magnitude

0

ClinVar
Risk	rs1057516797(GCCGGAC;GCCGGAC)
Alt	rs1057516797(GCCGGAC;GCCGGAC)
Reference	Rs1057516797(-;-)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131705824_131705830dupGACGCCG
CLNSRC
CLNACC	RCV000409917.1,