rs1057517106

Orientation

plus

Stabilized

plus

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

Make rs1057517106(G;T)

Make rs1057517106(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132378377

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057517106
dbSNP (classic)	rs1057517106
ClinGen	rs1057517106
ebi	rs1057517106
HLI	rs1057517106
Exac	rs1057517106
Gnomad	rs1057517106
Varsome	rs1057517106
LitVar	rs1057517106
Map	rs1057517106
PheGenI	rs1057517106
Biobank	rs1057517106
1000 genomes	rs1057517106
hgdp	rs1057517106
ensembl	rs1057517106
geneview	rs1057517106
scholar	rs1057517106
google	rs1057517106
pharmgkb	rs1057517106
gwascentral	rs1057517106
openSNP	rs1057517106
23andMe	rs1057517106
SNPshot	rs1057517106
SNPdbe	rs1057517106
MSV3d	rs1057517106
GWAS Ctlg	rs1057517106

Max Magnitude

0

ClinVar
Risk	rs1057517106(T;T)
Alt	rs1057517106(T;T)
Reference	Rs1057517106(G;G)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131714069G>T
CLNSRC
CLNACC	RCV000410584.1,