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rs201082652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201082652(G;T)
Make rs201082652(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370336
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs201082652
ebirs201082652
HLIrs201082652
Exacrs201082652
Varsomers201082652
Maprs201082652
PheGenIrs201082652
hapmaprs201082652
1000 genomesrs201082652
hgdprs201082652
ensemblrs201082652
gopubmedrs201082652
geneviewrs201082652
scholarrs201082652
googlers201082652
pharmgkbrs201082652
gwascentralrs201082652
openSNPrs201082652
23andMers201082652
23andMe allrs201082652
SNP Nexus

SNPshotrs201082652
SNPdbers201082652
MSV3drs201082652
GWAS Ctlgrs201082652
Max Magnitude0
ClinVar
Risk rs201082652(T;T)
Alt rs201082652(T;T)
Reference rs201082652(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131706028G>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022318.3, RCV000186160.2,