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rs377767447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767447(-;-)
Make rs377767447(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370204
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs377767447
ebirs377767447
HLIrs377767447
Exacrs377767447
Varsomers377767447
Maprs377767447
PheGenIrs377767447
hapmaprs377767447
1000 genomesrs377767447
hgdprs377767447
ensemblrs377767447
gopubmedrs377767447
geneviewrs377767447
scholarrs377767447
googlers377767447
pharmgkbrs377767447
gwascentralrs377767447
openSNPrs377767447
23andMers377767447
23andMe allrs377767447
SNP Nexus

SNPshotrs377767447
SNPdbers377767447
MSV3drs377767447
GWAS Ctlgrs377767447
Max Magnitude0
ClinVar
Risk rs377767447(;)
Alt rs377767447(;)
Reference rs377767447(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.131705896delC
CLNSRC ClinVar
CLNACC RCV000022306.2,


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