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rs1057516909

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516909(-;-)
Make rs1057516909(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132393772
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057516909
dbSNP (old)rs1057516909
ClinGenrs1057516909
ebirs1057516909
HLIrs1057516909
Exacrs1057516909
Gnomadrs1057516909
Varsomers1057516909
Maprs1057516909
PheGenIrs1057516909
Biobankrs1057516909
1000 genomesrs1057516909
hgdprs1057516909
ensemblrs1057516909
gopubmedrs1057516909
geneviewrs1057516909
scholarrs1057516909
googlers1057516909
pharmgkbrs1057516909
gwascentralrs1057516909
openSNPrs1057516909
23andMers1057516909
23andMe allrs1057516909
SNPshotrs1057516909
SNPdbers1057516909
MSV3drs1057516909
GWAS Ctlgrs1057516909
Max Magnitude0
ClinVar
Risk rs1057516909(-;-)
Alt rs1057516909(-;-)
Reference Rs1057516909(C;C)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131729464delC
CLNSRC
CLNACC RCV000412234.1,