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rs121908890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908890(C;T)
Make rs121908890(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132384154
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs121908890
dbSNP (classic)rs121908890
ClinGenrs121908890
ebirs121908890
HLIrs121908890
Exacrs121908890
Gnomadrs121908890
Varsomers121908890
LitVarrs121908890
Maprs121908890
PheGenIrs121908890
Biobankrs121908890
1000 genomesrs121908890
hgdprs121908890
ensemblrs121908890
geneviewrs121908890
scholarrs121908890
googlers121908890
pharmgkbrs121908890
gwascentralrs121908890
openSNPrs121908890
23andMers121908890
SNPshotrs121908890
SNPdbers121908890
MSV3drs121908890
GWAS Ctlgrs121908890
Max Magnitude0
OMIM603377
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908890(T;T)
Alt rs121908890(T;T)
Reference Rs121908890(C;C)
Significance Other
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131719846C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006791.7,