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rs121908887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(TAT;TAT) 0 common in clinvar
Make rs121908887(-;-)
Make rs121908887(-;A)
Make rs121908887(A;A)
ReferenceGRCh38 38.1/141
Chromosome5
Position132390839
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs121908887
ebirs121908887
HLIrs121908887
Exacrs121908887
Varsomers121908887
Maprs121908887
PheGenIrs121908887
hapmaprs121908887
1000 genomesrs121908887
hgdprs121908887
ensemblrs121908887
gopubmedrs121908887
geneviewrs121908887
scholarrs121908887
googlers121908887
pharmgkbrs121908887
gwascentralrs121908887
openSNPrs121908887
23andMers121908887
23andMe allrs121908887
SNP Nexus

SNPshotrs121908887
SNPdbers121908887
MSV3drs121908887
GWAS Ctlgrs121908887
Max Magnitude0
OMIM603377
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908887(A;A)
Alt rs121908887(A;A)
Reference rs121908887(TAT;TAT)
Significance Other
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131726531dupA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000006786.9,