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rs1057519051

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519051(G;G)
Make rs1057519051(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position132390825
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs1057519051
dbSNP (old)rs1057519051
ClinGenrs1057519051
ebirs1057519051
HLIrs1057519051
Exacrs1057519051
Gnomadrs1057519051
Varsomers1057519051
Maprs1057519051
PheGenIrs1057519051
Biobankrs1057519051
1000 genomesrs1057519051
hgdprs1057519051
ensemblrs1057519051
gopubmedrs1057519051
geneviewrs1057519051
scholarrs1057519051
googlers1057519051
pharmgkbrs1057519051
gwascentralrs1057519051
openSNPrs1057519051
23andMers1057519051
23andMe allrs1057519051
SNPshotrs1057519051
SNPdbers1057519051
MSV3drs1057519051
GWAS Ctlgrs1057519051
Max Magnitude0
ClinVar
Risk rs1057519051(G;G)
Alt rs1057519051(G;G)
Reference Rs1057519051(T;T)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131726517T>G
CLNSRC
CLNACC RCV000416283.1,