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rs878853249

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853249(A;T)
Make rs878853249(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position132385334
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs878853249
ebirs878853249
HLIrs878853249
Exacrs878853249
Varsomers878853249
Maprs878853249
PheGenIrs878853249
hapmaprs878853249
1000 genomesrs878853249
hgdprs878853249
ensemblrs878853249
gopubmedrs878853249
geneviewrs878853249
scholarrs878853249
googlers878853249
pharmgkbrs878853249
gwascentralrs878853249
openSNPrs878853249
23andMers878853249
23andMe allrs878853249
SNP Nexus

SNPshotrs878853249
SNPdbers878853249
MSV3drs878853249
GWAS Ctlgrs878853249
Max Magnitude0
ClinVar
Risk rs878853249(T;T)
Alt rs878853249(T;T)
Reference rs878853249(A;A)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131721026A>T
CLNSRC
CLNACC RCV000225039.1,