rs1057517069

Orientation

plus

Stabilized

plus

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

Make rs1057517069(A;A)

Make rs1057517069(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132370366

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057517069
dbSNP (classic)	rs1057517069
ClinGen	rs1057517069
ebi	rs1057517069
HLI	rs1057517069
Exac	rs1057517069
Gnomad	rs1057517069
Varsome	rs1057517069
LitVar	rs1057517069
Map	rs1057517069
PheGenI	rs1057517069
Biobank	rs1057517069
1000 genomes	rs1057517069
hgdp	rs1057517069
ensembl	rs1057517069
geneview	rs1057517069
scholar	rs1057517069
google	rs1057517069
pharmgkb	rs1057517069
gwascentral	rs1057517069
openSNP	rs1057517069
23andMe	rs1057517069
SNPshot	rs1057517069
SNPdbe	rs1057517069
MSV3d	rs1057517069
GWAS Ctlg	rs1057517069

Max Magnitude

0

ClinVar
Risk	rs1057517069(A;A)
Alt	rs1057517069(A;A)
Reference	Rs1057517069(G;G)
Significance	Probable-Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131706058G>A
CLNSRC
CLNACC	RCV000409176.1,