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rs139203363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139203363(A;A)
Make rs139203363(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position132370006
GeneLOC553103, SLC22A5
is asnp
is mentioned by
dbSNPrs139203363
dbSNP (classic)rs139203363
ClinGenrs139203363
ebirs139203363
HLIrs139203363
Exacrs139203363
Gnomadrs139203363
Varsomers139203363
LitVarrs139203363
Maprs139203363
PheGenIrs139203363
Biobankrs139203363
1000 genomesrs139203363
hgdprs139203363
ensemblrs139203363
geneviewrs139203363
scholarrs139203363
googlers139203363
pharmgkbrs139203363
gwascentralrs139203363
openSNPrs139203363
23andMers139203363
SNPshotrs139203363
SNPdbers139203363
MSV3drs139203363
GWAS Ctlgrs139203363
Max Magnitude0
ClinVar
Risk rs139203363(A;A)
Alt rs139203363(A;A)
Reference Rs139203363(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705698G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000022295.3,