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rs386134227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134227(-;-)
Make rs386134227(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370120
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs386134227
ebirs386134227
HLIrs386134227
Exacrs386134227
Varsomers386134227
Maprs386134227
PheGenIrs386134227
hapmaprs386134227
1000 genomesrs386134227
hgdprs386134227
ensemblrs386134227
gopubmedrs386134227
geneviewrs386134227
scholarrs386134227
googlers386134227
pharmgkbrs386134227
gwascentralrs386134227
openSNPrs386134227
23andMers386134227
23andMe allrs386134227
SNP Nexus

SNPshotrs386134227
SNPdbers386134227
MSV3drs386134227
GWAS Ctlgrs386134227
Max Magnitude0
ClinVar
Risk rs386134227(;)
Alt rs386134227(;)
Reference rs386134227(T;T)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705812delT
CLNSRC ClinVar
CLNACC RCV000032093.2,