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rs72552727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552727(A;A)
Make rs72552727(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position132378380
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs72552727
dbSNP (classic)rs72552727
ClinGenrs72552727
ebirs72552727
HLIrs72552727
Exacrs72552727
Gnomadrs72552727
Varsomers72552727
LitVarrs72552727
Maprs72552727
PheGenIrs72552727
Biobankrs72552727
1000 genomesrs72552727
hgdprs72552727
ensemblrs72552727
geneviewrs72552727
scholarrs72552727
googlers72552727
pharmgkbrs72552727
gwascentralrs72552727
openSNPrs72552727
23andMers72552727
SNPshotrs72552727
SNPdbers72552727
MSV3drs72552727
GWAS Ctlgrs72552727
Max Magnitude0
OMIM603377
Desc
Variant0003
Relatedalso
ClinVar
Risk rs72552727(A;A)
Alt rs72552727(A;A)
Reference Rs72552727(G;G)
Significance Other
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131714072G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006780.6,