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rs386134223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134223(A;A)
Make rs386134223(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392577
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134223
ebirs386134223
HLIrs386134223
Exacrs386134223
Varsomers386134223
Maprs386134223
PheGenIrs386134223
hapmaprs386134223
1000 genomesrs386134223
hgdprs386134223
ensemblrs386134223
gopubmedrs386134223
geneviewrs386134223
scholarrs386134223
googlers386134223
pharmgkbrs386134223
gwascentralrs386134223
openSNPrs386134223
23andMers386134223
23andMe allrs386134223
SNP Nexus

SNPshotrs386134223
SNPdbers386134223
MSV3drs386134223
GWAS Ctlgrs386134223
Max Magnitude0
ClinVar
Risk rs386134223(A,T;A,T)
Alt rs386134223(A,T;A,T)
Reference rs386134223(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728269G>A
CLNSRC ARUP SLC22A5
CLNACC RCV000022382.2,


[PMID 14605509] Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.