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rs386833989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833989(A;A)
Make rs386833989(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73610433
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833989
ebirs386833989
HLIrs386833989
Exacrs386833989
Varsomers386833989
Maprs386833989
PheGenIrs386833989
hapmaprs386833989
1000 genomesrs386833989
hgdprs386833989
ensemblrs386833989
gopubmedrs386833989
geneviewrs386833989
scholarrs386833989
googlers386833989
pharmgkbrs386833989
gwascentralrs386833989
openSNPrs386833989
23andMers386833989
23andMe allrs386833989
SNP Nexus

SNPshotrs386833989
SNPdbers386833989
MSV3drs386833989
GWAS Ctlgrs386833989
Max Magnitude0
ClinVar
Risk rs386833989(A;A)
Alt rs386833989(A;A)
Reference rs386833989(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74320156C>T
CLNSRC ClinVar
CLNACC RCV000049966.1,


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