rs202088921

Orientation

plus

Stabilized

plus

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

Make rs202088921(C;T)

Make rs202088921(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132370108

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs202088921
dbSNP (classic)	rs202088921
ClinGen	rs202088921
ebi	rs202088921
HLI	rs202088921
Exac	rs202088921
Gnomad	rs202088921
Varsome	rs202088921
LitVar	rs202088921
Map	rs202088921
PheGenI	rs202088921
Biobank	rs202088921
1000 genomes	rs202088921
hgdp	rs202088921
ensembl	rs202088921
geneview	rs202088921
scholar	rs202088921
google	rs202088921
pharmgkb	rs202088921
gwascentral	rs202088921
openSNP	rs202088921
23andMe	rs202088921
SNPshot	rs202088921
SNPdbe	rs202088921
MSV3d	rs202088921
GWAS Ctlg	rs202088921

Max Magnitude

0

ClinVar
Risk	rs202088921(G;G) rs202088921(T;T)
Alt	rs202088921(G;G) rs202088921(T;T)
Reference	Rs202088921(C;C)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131705800C>G; NC_000005.9:g.131705800C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022303.2, RCV000173299.1, RCV000186152.2,

[PMID 17126586] Expanded newborn screening identifies maternal primary carnitine deficiency.