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rs267607054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607054(C;T)
Make rs267607054(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132390832
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs267607054
ebirs267607054
HLIrs267607054
Exacrs267607054
Varsomers267607054
Maprs267607054
PheGenIrs267607054
hapmaprs267607054
1000 genomesrs267607054
hgdprs267607054
ensemblrs267607054
gopubmedrs267607054
geneviewrs267607054
scholarrs267607054
googlers267607054
pharmgkbrs267607054
gwascentralrs267607054
openSNPrs267607054
23andMers267607054
23andMe allrs267607054
SNP Nexus

SNPshotrs267607054
SNPdbers267607054
MSV3drs267607054
GWAS Ctlgrs267607054
Max Magnitude0
ClinVar
Risk rs267607054(T;T)
Alt rs267607054(T;T)
Reference rs267607054(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131726524C>T
CLNSRC ARUP SLC22A5 OMIM Allelic Variant
CLNACC RCV000006796.3, RCV000186144.2,