rs121908891

Orientation

plus

Stabilized

plus

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

Make rs121908891(A;A)

Make rs121908891(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132390833

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs121908891
dbSNP (classic)	rs121908891
ClinGen	rs121908891
ebi	rs121908891
HLI	rs121908891
Exac	rs121908891
Gnomad	rs121908891
Varsome	rs121908891
LitVar	rs121908891
Map	rs121908891
PheGenI	rs121908891
Biobank	rs121908891
1000 genomes	rs121908891
hgdp	rs121908891
ensembl	rs121908891
geneview	rs121908891
scholar	rs121908891
google	rs121908891
pharmgkb	rs121908891
gwascentral	rs121908891
openSNP	rs121908891
23andMe	rs121908891
SNPshot	rs121908891
SNPdbe	rs121908891
MSV3d	rs121908891
GWAS Ctlg	rs121908891

Max Magnitude

0

OMIM	603377
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121908891(A;A)
Alt	rs121908891(A;A)
Reference	Rs121908891(G;G)
Significance	Pathogenic
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131726525G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006793.5,