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rs72552723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552723(C;C)
Make rs72552723(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370028
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs72552723
ebirs72552723
HLIrs72552723
Exacrs72552723
Varsomers72552723
Maprs72552723
PheGenIrs72552723
hapmaprs72552723
1000 genomesrs72552723
hgdprs72552723
ensemblrs72552723
gopubmedrs72552723
geneviewrs72552723
scholarrs72552723
googlers72552723
pharmgkbrs72552723
gwascentralrs72552723
openSNPrs72552723
23andMers72552723
23andMe allrs72552723
SNP Nexus

SNPshotrs72552723
SNPdbers72552723
MSV3drs72552723
GWAS Ctlgrs72552723
Max Magnitude0
ClinVar
Risk rs72552723(C;C)
Alt rs72552723(C;C)
Reference rs72552723(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705720G>C
CLNSRC ARUP SLC22A5
CLNACC RCV000022298.2,


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