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rs121908886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908886(C;T)
Make rs121908886(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387044
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs121908886
dbSNP (classic)rs121908886
ClinGenrs121908886
ebirs121908886
HLIrs121908886
Exacrs121908886
Gnomadrs121908886
Varsomers121908886
LitVarrs121908886
Maprs121908886
PheGenIrs121908886
Biobankrs121908886
1000 genomesrs121908886
hgdprs121908886
ensemblrs121908886
geneviewrs121908886
scholarrs121908886
googlers121908886
pharmgkbrs121908886
gwascentralrs121908886
openSNPrs121908886
23andMers121908886
SNPshotrs121908886
SNPdbers121908886
MSV3drs121908886
GWAS Ctlgrs121908886
Max Magnitude0
OMIM603377
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908886(T;T)
Alt rs121908886(T;T)
Reference Rs121908886(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.131722736C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006785.6,