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rs114269482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114269482(C;T)
Make rs114269482(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132385370
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs114269482
ebirs114269482
HLIrs114269482
Exacrs114269482
Varsomers114269482
Maprs114269482
PheGenIrs114269482
hapmaprs114269482
1000 genomesrs114269482
hgdprs114269482
ensemblrs114269482
gopubmedrs114269482
geneviewrs114269482
scholarrs114269482
googlers114269482
pharmgkbrs114269482
gwascentralrs114269482
openSNPrs114269482
23andMers114269482
23andMe allrs114269482
SNP Nexus

SNPshotrs114269482
SNPdbers114269482
MSV3drs114269482
GWAS Ctlgrs114269482
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs114269482(T;T)
Alt rs114269482(T;T)
Reference rs114269482(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131721062C>T
CLNSRC ARUP SLC22A5 HGMD
CLNACC RCV000022339.5,