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rs386134214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134214(C;C)
Make rs386134214(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132390725
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134214
ebirs386134214
HLIrs386134214
Exacrs386134214
Varsomers386134214
Maprs386134214
PheGenIrs386134214
hapmaprs386134214
1000 genomesrs386134214
hgdprs386134214
ensemblrs386134214
gopubmedrs386134214
geneviewrs386134214
scholarrs386134214
googlers386134214
pharmgkbrs386134214
gwascentralrs386134214
openSNPrs386134214
23andMers386134214
23andMe allrs386134214
SNP Nexus

SNPshotrs386134214
SNPdbers386134214
MSV3drs386134214
GWAS Ctlgrs386134214
Max Magnitude0
ClinVar
Risk rs386134214(C;C)
Alt rs386134214(C;C)
Reference rs386134214(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.131726417T>C
CLNSRC ARUP SLC22A5
CLNACC RCV000022362.2,