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rs377767444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar
Make rs377767444(-;-)
Make rs377767444(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370039
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs377767444
ebirs377767444
HLIrs377767444
Exacrs377767444
Varsomers377767444
Maprs377767444
PheGenIrs377767444
hapmaprs377767444
1000 genomesrs377767444
hgdprs377767444
ensemblrs377767444
gopubmedrs377767444
geneviewrs377767444
scholarrs377767444
googlers377767444
pharmgkbrs377767444
gwascentralrs377767444
openSNPrs377767444
23andMers377767444
23andMe allrs377767444
SNP Nexus

SNPshotrs377767444
SNPdbers377767444
MSV3drs377767444
GWAS Ctlgrs377767444
Max Magnitude0
ClinVar
Risk rs377767444(;)
Alt rs377767444(;)
Reference rs377767444(TCT;TCT)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705731_131705733delTTC
CLNSRC ClinVar
CLNACC RCV000022300.2,


[PMID 12210323] Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.