rs1057517306

Orientation

plus

Stabilized

plus

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

Make rs1057517306(-;C)

Make rs1057517306(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132393680

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057517306
dbSNP (classic)	rs1057517306
ClinGen	rs1057517306
ebi	rs1057517306
HLI	rs1057517306
Exac	rs1057517306
Gnomad	rs1057517306
Varsome	rs1057517306
LitVar	rs1057517306
Map	rs1057517306
PheGenI	rs1057517306
Biobank	rs1057517306
1000 genomes	rs1057517306
hgdp	rs1057517306
ensembl	rs1057517306
geneview	rs1057517306
scholar	rs1057517306
google	rs1057517306
pharmgkb	rs1057517306
gwascentral	rs1057517306
openSNP	rs1057517306
23andMe	rs1057517306
SNPshot	rs1057517306
SNPdbe	rs1057517306
MSV3d	rs1057517306
GWAS Ctlg	rs1057517306

Max Magnitude

0

ClinVar
Risk	rs1057517306(C;C)
Alt	rs1057517306(C;C)
Reference	Rs1057517306(-;-)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131729372dupC
CLNSRC
CLNACC	RCV000411969.1,