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rs386134215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCT;GCT) 0 common in clinvar
(I;I) 0 common genotype
(TGC;TGC) 0 common in clinvar
Make rs386134215(-;-)
Make rs386134215(-;TGC)
ReferenceGRCh38 38.1/141
Chromosome5
Position132390818
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134215
dbSNP (classic)rs386134215
ClinGenrs386134215
ebirs386134215
HLIrs386134215
Exacrs386134215
Gnomadrs386134215
Varsomers386134215
LitVarrs386134215
Maprs386134215
PheGenIrs386134215
Biobankrs386134215
1000 genomesrs386134215
hgdprs386134215
ensemblrs386134215
geneviewrs386134215
scholarrs386134215
googlers386134215
pharmgkbrs386134215
gwascentralrs386134215
openSNPrs386134215
23andMers386134215
SNPshotrs386134215
SNPdbers386134215
MSV3drs386134215
GWAS Ctlgrs386134215
Max Magnitude0
ClinVar
Risk rs386134215(-;-) Rs386134215(GCT;GCT)
Alt rs386134215(-;-) Rs386134215(GCT;GCT)
Reference Rs386134215(TGC;TGC)
Significance Probable-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.131726510_131726512delTGC
CLNSRC ClinVar
CLNACC RCV000022364.2, RCV000186156.1,