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rs1057516765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516765(C;G)
Make rs1057516765(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132378475
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057516765
dbSNP (classic)rs1057516765
ClinGenrs1057516765
ebirs1057516765
HLIrs1057516765
Exacrs1057516765
Gnomadrs1057516765
Varsomers1057516765
LitVarrs1057516765
Maprs1057516765
PheGenIrs1057516765
Biobankrs1057516765
1000 genomesrs1057516765
hgdprs1057516765
ensemblrs1057516765
geneviewrs1057516765
scholarrs1057516765
googlers1057516765
pharmgkbrs1057516765
gwascentralrs1057516765
openSNPrs1057516765
23andMers1057516765
23andMe allrs1057516765
SNPshotrs1057516765
SNPdbers1057516765
MSV3drs1057516765
GWAS Ctlgrs1057516765
Max Magnitude0
ClinVar
Risk rs1057516765(G;G)
Alt rs1057516765(G;G)
Reference Rs1057516765(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.131714167C>G
CLNSRC
CLNACC RCV000411083.1,