Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908893(C;T)
Make rs121908893(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132385435
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs121908893
ebirs121908893
HLIrs121908893
Exacrs121908893
Varsomers121908893
Maprs121908893
PheGenIrs121908893
hapmaprs121908893
1000 genomesrs121908893
hgdprs121908893
ensemblrs121908893
gopubmedrs121908893
geneviewrs121908893
scholarrs121908893
googlers121908893
pharmgkbrs121908893
gwascentralrs121908893
openSNPrs121908893
23andMers121908893
23andMe allrs121908893
SNP Nexus

SNPshotrs121908893
SNPdbers121908893
MSV3drs121908893
GWAS Ctlgrs121908893
GMAF0.0009183
Max Magnitude0
OMIM603377
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908893(A,T;A,T)
Alt rs121908893(A,T;A,T)
Reference rs121908893(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.131721127C>T
CLNSRC ARUP SLC22A5 HGMD OMIM Allelic Variant
CLNACC RCV000006795.7,