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rs121908889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908889(A;A)
Make rs121908889(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132384155
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs121908889
dbSNP (classic)rs121908889
ClinGenrs121908889
ebirs121908889
HLIrs121908889
Exacrs121908889
Gnomadrs121908889
Varsomers121908889
LitVarrs121908889
Maprs121908889
PheGenIrs121908889
Biobankrs121908889
1000 genomesrs121908889
hgdprs121908889
ensemblrs121908889
geneviewrs121908889
scholarrs121908889
googlers121908889
pharmgkbrs121908889
gwascentralrs121908889
openSNPrs121908889
23andMers121908889
SNPshotrs121908889
SNPdbers121908889
MSV3drs121908889
GWAS Ctlgrs121908889
Max Magnitude0
OMIM603377
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908889(A;A)
Alt rs121908889(A;A)
Reference Rs121908889(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131719847G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006790.5, RCV000186134.2,