rs1057516765

Orientation

plus

Stabilized

plus

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

Make rs1057516765(C;G)

Make rs1057516765(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132378475

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057516765
dbSNP (classic)	rs1057516765
ClinGen	rs1057516765
ebi	rs1057516765
HLI	rs1057516765
Exac	rs1057516765
Gnomad	rs1057516765
Varsome	rs1057516765
LitVar	rs1057516765
Map	rs1057516765
PheGenI	rs1057516765
Biobank	rs1057516765
1000 genomes	rs1057516765
hgdp	rs1057516765
ensembl	rs1057516765
geneview	rs1057516765
scholar	rs1057516765
google	rs1057516765
pharmgkb	rs1057516765
gwascentral	rs1057516765
openSNP	rs1057516765
23andMe	rs1057516765
SNPshot	rs1057516765
SNPdbe	rs1057516765
MSV3d	rs1057516765
GWAS Ctlg	rs1057516765

Max Magnitude

0

ClinVar
Risk	rs1057516765(G;G)
Alt	rs1057516765(G;G)
Reference	Rs1057516765(C;C)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131714167C>G
CLNSRC
CLNACC	RCV000411083.1,