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rs386833990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833990(A;A)
Make rs386833990(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73644407
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833990
ebirs386833990
HLIrs386833990
Exacrs386833990
Varsomers386833990
Maprs386833990
PheGenIrs386833990
hapmaprs386833990
1000 genomesrs386833990
hgdprs386833990
ensemblrs386833990
gopubmedrs386833990
geneviewrs386833990
scholarrs386833990
googlers386833990
pharmgkbrs386833990
gwascentralrs386833990
openSNPrs386833990
23andMers386833990
23andMe allrs386833990
SNP Nexus

SNPshotrs386833990
SNPdbers386833990
MSV3drs386833990
GWAS Ctlgrs386833990
Max Magnitude0
ClinVar
Risk rs386833990(A;A)
Alt rs386833990(A;A)
Reference rs386833990(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74354130C>T
CLNSRC ClinVar
CLNACC RCV000049967.1,


[PMID 15172001] Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.