rs1057519051

Orientation

plus

Stabilized

plus

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

Make rs1057519051(G;G)

Make rs1057519051(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

132390825

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs1057519051
dbSNP (classic)	rs1057519051
ClinGen	rs1057519051
ebi	rs1057519051
HLI	rs1057519051
Exac	rs1057519051
Gnomad	rs1057519051
Varsome	rs1057519051
LitVar	rs1057519051
Map	rs1057519051
PheGenI	rs1057519051
Biobank	rs1057519051
1000 genomes	rs1057519051
hgdp	rs1057519051
ensembl	rs1057519051
geneview	rs1057519051
scholar	rs1057519051
google	rs1057519051
pharmgkb	rs1057519051
gwascentral	rs1057519051
openSNP	rs1057519051
23andMe	rs1057519051
SNPshot	rs1057519051
SNPdbe	rs1057519051
MSV3d	rs1057519051
GWAS Ctlg	rs1057519051

Max Magnitude

0

ClinVar
Risk	rs1057519051(G;G)
Alt	rs1057519051(G;G)
Reference	Rs1057519051(T;T)
Significance	Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131726517T>G
CLNSRC
CLNACC	RCV000416283.1,