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rs1057517106

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517106(G;T)
Make rs1057517106(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132378377
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057517106
dbSNP (old)rs1057517106
ClinGenrs1057517106
ebirs1057517106
HLIrs1057517106
Exacrs1057517106
Gnomadrs1057517106
Varsomers1057517106
Maprs1057517106
PheGenIrs1057517106
Biobankrs1057517106
1000 genomesrs1057517106
hgdprs1057517106
ensemblrs1057517106
gopubmedrs1057517106
geneviewrs1057517106
scholarrs1057517106
googlers1057517106
pharmgkbrs1057517106
gwascentralrs1057517106
openSNPrs1057517106
23andMers1057517106
23andMe allrs1057517106
SNPshotrs1057517106
SNPdbers1057517106
MSV3drs1057517106
GWAS Ctlgrs1057517106
Max Magnitude0
ClinVar
Risk rs1057517106(T;T)
Alt rs1057517106(T;T)
Reference Rs1057517106(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.131714069G>T
CLNSRC
CLNACC RCV000410584.1,