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rs267607053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs267607053(AT;AT)
Make rs267607053(AT;GC)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392489
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs267607053
ebirs267607053
HLIrs267607053
Exacrs267607053
Varsomers267607053
Maprs267607053
PheGenIrs267607053
hapmaprs267607053
1000 genomesrs267607053
hgdprs267607053
ensemblrs267607053
gopubmedrs267607053
geneviewrs267607053
scholarrs267607053
googlers267607053
pharmgkbrs267607053
gwascentralrs267607053
openSNPrs267607053
23andMers267607053
23andMe allrs267607053
SNP Nexus

SNPshotrs267607053
SNPdbers267607053
MSV3drs267607053
GWAS Ctlgrs267607053
Max Magnitude0
ClinVar
Risk rs267607053(AT;AT)
Alt rs267607053(AT;AT)
Reference rs267607053(GC;GC)
Significance Pathogenic
Disease Renal carnitine transport defect not specified
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect not specified
Reversed 0
HGVS NC_000005.9:g.131728181_131728182delGCinsAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006797.2, RCV000186157.1,