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

rs121908892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908892(G;T)
Make rs121908892(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132369975
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs121908892
ebirs121908892
HLIrs121908892
Exacrs121908892
Varsomers121908892
Maprs121908892
PheGenIrs121908892
hapmaprs121908892
1000 genomesrs121908892
hgdprs121908892
ensemblrs121908892
gopubmedrs121908892
geneviewrs121908892
scholarrs121908892
googlers121908892
pharmgkbrs121908892
gwascentralrs121908892
openSNPrs121908892
23andMers121908892
23andMe allrs121908892
SNP Nexus

SNPshotrs121908892
SNPdbers121908892
MSV3drs121908892
GWAS Ctlgrs121908892
Max Magnitude0
OMIM603377
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908892(T;T)
Alt rs121908892(T;T)
Reference rs121908892(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705667G>T
CLNSRC ARUP SLC22A5 OMIM Allelic Variant
CLNACC RCV000006794.4,