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rs72552735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552735(C;T)
Make rs72552735(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392598
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552735
ebirs72552735
HLIrs72552735
Exacrs72552735
Varsomers72552735
Maprs72552735
PheGenIrs72552735
hapmaprs72552735
1000 genomesrs72552735
hgdprs72552735
ensemblrs72552735
gopubmedrs72552735
geneviewrs72552735
scholarrs72552735
googlers72552735
pharmgkbrs72552735
gwascentralrs72552735
openSNPrs72552735
23andMers72552735
23andMe allrs72552735
SNP Nexus

SNPshotrs72552735
SNPdbers72552735
MSV3drs72552735
GWAS Ctlgrs72552735
Max Magnitude0
OMIM603377
Desc
Variant0011
Relatedalso
ClinVar
Risk rs72552735(T;T)
Alt rs72552735(T;T)
Reference rs72552735(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728290C>T
CLNSRC ARUP SLC22A5 OMIM Allelic Variant
CLNACC RCV000006788.5,