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rs377767443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs377767443(-;-)
Make rs377767443(-;C)
Make rs377767443(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position132369976
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs377767443
ebirs377767443
HLIrs377767443
Exacrs377767443
Varsomers377767443
Maprs377767443
PheGenIrs377767443
hapmaprs377767443
1000 genomesrs377767443
hgdprs377767443
ensemblrs377767443
gopubmedrs377767443
geneviewrs377767443
scholarrs377767443
googlers377767443
pharmgkbrs377767443
gwascentralrs377767443
openSNPrs377767443
23andMers377767443
23andMe allrs377767443
SNP Nexus

SNPshotrs377767443
SNPdbers377767443
MSV3drs377767443
GWAS Ctlgrs377767443
Max Magnitude0
ClinVar
Risk rs377767443(C;C)
Alt rs377767443(C;C)
Reference rs377767443(;)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705668dupC
CLNSRC ClinVar
CLNACC RCV000022292.2,


[PMID 9916797] Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.