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rs72552730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552730(A;A)
Make rs72552730(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387102
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552730
ebirs72552730
HLIrs72552730
Exacrs72552730
Varsomers72552730
Maprs72552730
PheGenIrs72552730
hapmaprs72552730
1000 genomesrs72552730
hgdprs72552730
ensemblrs72552730
gopubmedrs72552730
geneviewrs72552730
scholarrs72552730
googlers72552730
pharmgkbrs72552730
gwascentralrs72552730
openSNPrs72552730
23andMers72552730
23andMe allrs72552730
SNP Nexus

SNPshotrs72552730
SNPdbers72552730
MSV3drs72552730
GWAS Ctlgrs72552730
Max Magnitude0
ClinVar
Risk rs72552730(A;A)
Alt rs72552730(A;A)
Reference rs72552730(C;C)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131722794C>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022358.2,



[PMID 11058897] Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.