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rs28383481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28383481(A;A)
Make rs28383481(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132393688
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs28383481
ebirs28383481
HLIrs28383481
Exacrs28383481
Varsomers28383481
Maprs28383481
PheGenIrs28383481
hapmaprs28383481
1000 genomesrs28383481
hgdprs28383481
ensemblrs28383481
gopubmedrs28383481
geneviewrs28383481
scholarrs28383481
googlers28383481
pharmgkbrs28383481
gwascentralrs28383481
openSNPrs28383481
23andMers28383481
23andMe allrs28383481
SNP Nexus

SNPshotrs28383481
SNPdbers28383481
MSV3drs28383481
GWAS Ctlgrs28383481
GMAF0.003673
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

? (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
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131729380G>A
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022386.5,



? (A;G) (G;G)


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