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rs1057517069

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517069(A;A)
Make rs1057517069(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132370366
GeneLOC553103, SLC22A5
is asnp
is mentioned by
dbSNPrs1057517069
dbSNP (old)rs1057517069
ClinGenrs1057517069
ebirs1057517069
HLIrs1057517069
Exacrs1057517069
Gnomadrs1057517069
Varsomers1057517069
Maprs1057517069
PheGenIrs1057517069
Biobankrs1057517069
1000 genomesrs1057517069
hgdprs1057517069
ensemblrs1057517069
gopubmedrs1057517069
geneviewrs1057517069
scholarrs1057517069
googlers1057517069
pharmgkbrs1057517069
gwascentralrs1057517069
openSNPrs1057517069
23andMers1057517069
23andMe allrs1057517069
SNPshotrs1057517069
SNPdbers1057517069
MSV3drs1057517069
GWAS Ctlgrs1057517069
Max Magnitude0
ClinVar
Risk rs1057517069(A;A)
Alt rs1057517069(A;A)
Reference Rs1057517069(G;G)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131706058G>A
CLNSRC
CLNACC RCV000409176.1,