rs1057516805

Orientation

plus

Stabilized

plus

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

Make rs1057516805(C;C)

Make rs1057516805(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132387024

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057516805
dbSNP (classic)	rs1057516805
ClinGen	rs1057516805
ebi	rs1057516805
HLI	rs1057516805
Exac	rs1057516805
Gnomad	rs1057516805
Varsome	rs1057516805
LitVar	rs1057516805
Map	rs1057516805
PheGenI	rs1057516805
Biobank	rs1057516805
1000 genomes	rs1057516805
hgdp	rs1057516805
ensembl	rs1057516805
geneview	rs1057516805
scholar	rs1057516805
google	rs1057516805
pharmgkb	rs1057516805
gwascentral	rs1057516805
openSNP	rs1057516805
23andMe	rs1057516805
SNPshot	rs1057516805
SNPdbe	rs1057516805
MSV3d	rs1057516805
GWAS Ctlg	rs1057516805

Max Magnitude

0

ClinVar
Risk	rs1057516805(C;C)
Alt	rs1057516805(C;C)
Reference	Rs1057516805(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.131722716G>C
CLNSRC
CLNACC	RCV000410776.1,