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rs1057516805

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516805(C;C)
Make rs1057516805(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132387024
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057516805
dbSNP (old)rs1057516805
ClinGenrs1057516805
ebirs1057516805
HLIrs1057516805
Exacrs1057516805
Gnomadrs1057516805
Varsomers1057516805
Maprs1057516805
PheGenIrs1057516805
Biobankrs1057516805
1000 genomesrs1057516805
hgdprs1057516805
ensemblrs1057516805
gopubmedrs1057516805
geneviewrs1057516805
scholarrs1057516805
googlers1057516805
pharmgkbrs1057516805
gwascentralrs1057516805
openSNPrs1057516805
23andMers1057516805
23andMe allrs1057516805
SNPshotrs1057516805
SNPdbers1057516805
MSV3drs1057516805
GWAS Ctlgrs1057516805
Max Magnitude0
ClinVar
Risk rs1057516805(C;C)
Alt rs1057516805(C;C)
Reference Rs1057516805(G;G)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131722716G>C
CLNSRC
CLNACC RCV000410776.1,