rs28383481

Orientation

plus

Stabilized

plus

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

Make rs28383481(A;A)

Make rs28383481(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132393688

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs28383481
dbSNP (classic)	rs28383481
ClinGen	rs28383481
ebi	rs28383481
HLI	rs28383481
Exac	rs28383481
Gnomad	rs28383481
Varsome	rs28383481
LitVar	rs28383481
Map	rs28383481
PheGenI	rs28383481
Biobank	rs28383481
1000 genomes	rs28383481
hgdp	rs28383481
ensembl	rs28383481
geneview	rs28383481
scholar	rs28383481
google	rs28383481
pharmgkb	rs28383481
gwascentral	rs28383481
openSNP	rs28383481
23andMe	rs28383481
SNPshot	rs28383481
SNPdbe	rs28383481
MSV3d	rs28383481
GWAS Ctlg	rs28383481

GMAF

0.003673

Max Magnitude

0

minor allele should be reclassified as benign according to [PMID 26990548]

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs28383481(A;A)
Alt	rs28383481(A;A)
Reference	Rs28383481(G;G)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131729380G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022386.6, RCV000426334.1,

[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.