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rs1057517306

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517306(-;C)
Make rs1057517306(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132393680
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057517306
dbSNP (old)rs1057517306
ClinGenrs1057517306
ebirs1057517306
HLIrs1057517306
Exacrs1057517306
Gnomadrs1057517306
Varsomers1057517306
Maprs1057517306
PheGenIrs1057517306
Biobankrs1057517306
1000 genomesrs1057517306
hgdprs1057517306
ensemblrs1057517306
gopubmedrs1057517306
geneviewrs1057517306
scholarrs1057517306
googlers1057517306
pharmgkbrs1057517306
gwascentralrs1057517306
openSNPrs1057517306
23andMers1057517306
23andMe allrs1057517306
SNPshotrs1057517306
SNPdbers1057517306
MSV3drs1057517306
GWAS Ctlgrs1057517306
Max Magnitude0
ClinVar
Risk rs1057517306(C;C)
Alt rs1057517306(C;C)
Reference Rs1057517306(-;-)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131729372dupC
CLNSRC
CLNACC RCV000411969.1,