rs1057516402

Orientation

plus

Stabilized

plus

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

Make rs1057516402(A;G)

Make rs1057516402(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132394183

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057516402
dbSNP (classic)	rs1057516402
ClinGen	rs1057516402
ebi	rs1057516402
HLI	rs1057516402
Exac	rs1057516402
Gnomad	rs1057516402
Varsome	rs1057516402
LitVar	rs1057516402
Map	rs1057516402
PheGenI	rs1057516402
Biobank	rs1057516402
1000 genomes	rs1057516402
hgdp	rs1057516402
ensembl	rs1057516402
geneview	rs1057516402
scholar	rs1057516402
google	rs1057516402
pharmgkb	rs1057516402
gwascentral	rs1057516402
openSNP	rs1057516402
23andMe	rs1057516402
SNPshot	rs1057516402
SNPdbe	rs1057516402
MSV3d	rs1057516402
GWAS Ctlg	rs1057516402

Max Magnitude

0

ClinVar
Risk	rs1057516402(G;G)
Alt	rs1057516402(G;G)
Reference	Rs1057516402(A;A)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131729875A>G
CLNSRC
CLNACC	RCV000411687.1,