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rs72552722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552722(C;G)
Make rs72552722(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132369984
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs72552722
ebirs72552722
HLIrs72552722
Exacrs72552722
Varsomers72552722
Maprs72552722
PheGenIrs72552722
hapmaprs72552722
1000 genomesrs72552722
hgdprs72552722
ensemblrs72552722
gopubmedrs72552722
geneviewrs72552722
scholarrs72552722
googlers72552722
pharmgkbrs72552722
gwascentralrs72552722
openSNPrs72552722
23andMers72552722
23andMe allrs72552722
SNP Nexus

SNPshotrs72552722
SNPdbers72552722
MSV3drs72552722
GWAS Ctlgrs72552722
Max Magnitude0
ClinVar
Risk rs72552722(G;G)
Alt rs72552722(G;G)
Reference rs72552722(C;C)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705676C>G
CLNSRC ARUP SLC22A5
CLNACC RCV000022293.2,


[PMID 11715001] Phenotype and genotype variation in primary carnitine deficiency.