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rs377767449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs377767449(-;-)
Make rs377767449(-;GGCTCGCCACC)
Make rs377767449(GGCTCGCCACC;GGCTCGCCACC)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370236
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs377767449
ebirs377767449
HLIrs377767449
Exacrs377767449
Varsomers377767449
Maprs377767449
PheGenIrs377767449
hapmaprs377767449
1000 genomesrs377767449
hgdprs377767449
ensemblrs377767449
gopubmedrs377767449
geneviewrs377767449
scholarrs377767449
googlers377767449
pharmgkbrs377767449
gwascentralrs377767449
openSNPrs377767449
23andMers377767449
23andMe allrs377767449
SNP Nexus

SNPshotrs377767449
SNPdbers377767449
MSV3drs377767449
GWAS Ctlgrs377767449
Max Magnitude0
ClinVar
Risk rs377767449(ACCGGCTCGCC;ACCGGCTCGCC)
Alt rs377767449(ACCGGCTCGCC;ACCGGCTCGCC)
Reference rs377767449(;)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131705918_131705928dupGGCTCGCCACC
CLNSRC ClinVar
CLNACC RCV000022309.2, RCV000186155.1,


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