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rs144020613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs144020613(A;A)
Make rs144020613(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370031
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs144020613
ebirs144020613
HLIrs144020613
Exacrs144020613
Varsomers144020613
Maprs144020613
PheGenIrs144020613
hapmaprs144020613
1000 genomesrs144020613
hgdprs144020613
ensemblrs144020613
gopubmedrs144020613
geneviewrs144020613
scholarrs144020613
googlers144020613
pharmgkbrs144020613
gwascentralrs144020613
openSNPrs144020613
23andMers144020613
23andMe allrs144020613
SNP Nexus

SNPshotrs144020613
SNPdbers144020613
MSV3drs144020613
GWAS Ctlgrs144020613
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs144020613(A;A)
Alt rs144020613(A;A)
Reference Rs144020613(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.131705723T>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022299.2,