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rs386134205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134205(C;T)
Make rs386134205(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132385349
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134205
dbSNP (classic)rs386134205
ClinGenrs386134205
ebirs386134205
HLIrs386134205
Exacrs386134205
Gnomadrs386134205
Varsomers386134205
LitVarrs386134205
Maprs386134205
PheGenIrs386134205
Biobankrs386134205
1000 genomesrs386134205
hgdprs386134205
ensemblrs386134205
geneviewrs386134205
scholarrs386134205
googlers386134205
pharmgkbrs386134205
gwascentralrs386134205
openSNPrs386134205
23andMers386134205
SNPshotrs386134205
SNPdbers386134205
MSV3drs386134205
GWAS Ctlgrs386134205
Max Magnitude0
ClinVar
Risk rs386134205(T;T)
Alt rs386134205(T;T)
Reference Rs386134205(C;C)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131721041C>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022348.2,