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rs386134197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134197(C;C)
Make rs386134197(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132384206
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134197
ebirs386134197
HLIrs386134197
Exacrs386134197
Varsomers386134197
Maprs386134197
PheGenIrs386134197
hapmaprs386134197
1000 genomesrs386134197
hgdprs386134197
ensemblrs386134197
gopubmedrs386134197
geneviewrs386134197
scholarrs386134197
googlers386134197
pharmgkbrs386134197
gwascentralrs386134197
openSNPrs386134197
23andMers386134197
23andMe allrs386134197
SNP Nexus

SNPshotrs386134197
SNPdbers386134197
MSV3drs386134197
GWAS Ctlgrs386134197
Max Magnitude0
ClinVar
Risk rs386134197(C;C)
Alt rs386134197(C;C)
Reference rs386134197(T;T)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131719898T>C
CLNSRC ARUP SLC22A5
CLNACC RCV000022329.2,