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rs786205079

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205079(-;-)
Make rs786205079(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position132392469
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs786205079
ebirs786205079
HLIrs786205079
Exacrs786205079
Varsomers786205079
Maprs786205079
PheGenIrs786205079
hapmaprs786205079
1000 genomesrs786205079
hgdprs786205079
ensemblrs786205079
gopubmedrs786205079
geneviewrs786205079
scholarrs786205079
googlers786205079
pharmgkbrs786205079
gwascentralrs786205079
openSNPrs786205079
23andMers786205079
23andMe allrs786205079
SNP Nexus

SNPshotrs786205079
SNPdbers786205079
MSV3drs786205079
GWAS Ctlgrs786205079
Max Magnitude0
ClinVar
Risk rs786205079(;)
Alt rs786205079(;)
Reference rs786205079(G;G)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728161delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006787.5,