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rs72552731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72552731(G;G)
Make rs72552731(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132390798
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552731
ebirs72552731
HLIrs72552731
Exacrs72552731
Varsomers72552731
Maprs72552731
PheGenIrs72552731
hapmaprs72552731
1000 genomesrs72552731
hgdprs72552731
ensemblrs72552731
gopubmedrs72552731
geneviewrs72552731
scholarrs72552731
googlers72552731
pharmgkbrs72552731
gwascentralrs72552731
openSNPrs72552731
23andMers72552731
23andMe allrs72552731
SNP Nexus

SNPshotrs72552731
SNPdbers72552731
MSV3drs72552731
GWAS Ctlgrs72552731
Max Magnitude0
ClinVar
Risk rs72552731(G;G)
Alt rs72552731(G;G)
Reference rs72552731(T;T)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131726490T>G
CLNSRC ARUP SLC22A5
CLNACC RCV000022363.2,


[PMID 12204000] A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.