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rs377724489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs377724489(A;C)
Make rs377724489(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position132378376
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs377724489
dbSNP (classic)rs377724489
ClinGenrs377724489
ebirs377724489
HLIrs377724489
Exacrs377724489
Gnomadrs377724489
Varsomers377724489
LitVarrs377724489
Maprs377724489
PheGenIrs377724489
Biobankrs377724489
1000 genomesrs377724489
hgdprs377724489
ensemblrs377724489
geneviewrs377724489
scholarrs377724489
googlers377724489
pharmgkbrs377724489
gwascentralrs377724489
openSNPrs377724489
23andMers377724489
SNPshotrs377724489
SNPdbers377724489
MSV3drs377724489
GWAS Ctlgrs377724489
Max Magnitude0
ClinVar
Risk rs377724489(C;C) rs377724489(T;T)
Alt rs377724489(C;C) rs377724489(T;T)
Reference Rs377724489(A;A)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131714068A>C
CLNSRC
CLNACC RCV000153961.3,