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rs1057516797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516797(-;GACGCCG)
Make rs1057516797(GACGCCG;GACGCCG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132370138
GeneLOC553103, SLC22A5
is asnp
is mentioned by
dbSNPrs1057516797
dbSNP (classic)rs1057516797
ClinGenrs1057516797
ebirs1057516797
HLIrs1057516797
Exacrs1057516797
Gnomadrs1057516797
Varsomers1057516797
LitVarrs1057516797
Maprs1057516797
PheGenIrs1057516797
Biobankrs1057516797
1000 genomesrs1057516797
hgdprs1057516797
ensemblrs1057516797
geneviewrs1057516797
scholarrs1057516797
googlers1057516797
pharmgkbrs1057516797
gwascentralrs1057516797
openSNPrs1057516797
23andMers1057516797
23andMe allrs1057516797
SNPshotrs1057516797
SNPdbers1057516797
MSV3drs1057516797
GWAS Ctlgrs1057516797
Max Magnitude0
ClinVar
Risk rs1057516797(GCCGGAC;GCCGGAC)
Alt rs1057516797(GCCGGAC;GCCGGAC)
Reference Rs1057516797(-;-)
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.131705824_131705830dupGACGCCG
CLNSRC
CLNACC RCV000409917.1,