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rs72552729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72552729(C;C)
Make rs72552729(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387047
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552729
ebirs72552729
HLIrs72552729
Exacrs72552729
Varsomers72552729
Maprs72552729
PheGenIrs72552729
hapmaprs72552729
1000 genomesrs72552729
hgdprs72552729
ensemblrs72552729
gopubmedrs72552729
geneviewrs72552729
scholarrs72552729
googlers72552729
pharmgkbrs72552729
gwascentralrs72552729
openSNPrs72552729
23andMers72552729
23andMe allrs72552729
SNP Nexus

SNPshotrs72552729
SNPdbers72552729
MSV3drs72552729
GWAS Ctlgrs72552729
Max Magnitude0
ClinVar
Risk rs72552729(A,C;A,C)
Alt rs72552729(A,C;A,C)
Reference rs72552729(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.131722739T>A; NC_000005.9:g.131722739T>C
CLNSRC ARUP SLC22A5
CLNACC RCV000032092.2, RCV000022355.2,



[PMID 10612840] Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.


[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.