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rs1057516402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516402(A;G)
Make rs1057516402(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132394183
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057516402
dbSNP (old)rs1057516402
ClinGenrs1057516402
ebirs1057516402
HLIrs1057516402
Exacrs1057516402
Gnomadrs1057516402
Varsomers1057516402
Maprs1057516402
PheGenIrs1057516402
Biobankrs1057516402
1000 genomesrs1057516402
hgdprs1057516402
ensemblrs1057516402
gopubmedrs1057516402
geneviewrs1057516402
scholarrs1057516402
googlers1057516402
pharmgkbrs1057516402
gwascentralrs1057516402
openSNPrs1057516402
23andMers1057516402
23andMe allrs1057516402
SNPshotrs1057516402
SNPdbers1057516402
MSV3drs1057516402
GWAS Ctlgrs1057516402
Max Magnitude0
ClinVar
Risk rs1057516402(G;G)
Alt rs1057516402(G;G)
Reference Rs1057516402(A;A)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131729875A>G
CLNSRC
CLNACC RCV000411687.1,