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rs386134203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134203(C;T)
Make rs386134203(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position132385444
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134203
dbSNP (classic)rs386134203
ClinGenrs386134203
ebirs386134203
HLIrs386134203
Exacrs386134203
Gnomadrs386134203
Varsomers386134203
LitVarrs386134203
Maprs386134203
PheGenIrs386134203
Biobankrs386134203
1000 genomesrs386134203
hgdprs386134203
ensemblrs386134203
geneviewrs386134203
scholarrs386134203
googlers386134203
pharmgkbrs386134203
gwascentralrs386134203
openSNPrs386134203
23andMers386134203
SNPshotrs386134203
SNPdbers386134203
MSV3drs386134203
GWAS Ctlgrs386134203
Max Magnitude0
ClinVar
Risk rs386134203(G;G) rs386134203(T;T)
Alt rs386134203(G;G) rs386134203(T;T)
Reference Rs386134203(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.131721136C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000022344.2,