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rs386833996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833996(A;A)
Make rs386833996(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73615443
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833996
ebirs386833996
HLIrs386833996
Exacrs386833996
Varsomers386833996
Maprs386833996
PheGenIrs386833996
hapmaprs386833996
1000 genomesrs386833996
hgdprs386833996
ensemblrs386833996
gopubmedrs386833996
geneviewrs386833996
scholarrs386833996
googlers386833996
pharmgkbrs386833996
gwascentralrs386833996
openSNPrs386833996
23andMers386833996
23andMe allrs386833996
SNP Nexus

SNPshotrs386833996
SNPdbers386833996
MSV3drs386833996
GWAS Ctlgrs386833996
Max Magnitude0
ClinVar
Risk rs386833996(A;A)
Alt rs386833996(A;A)
Reference rs386833996(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74325166C>T
CLNSRC ClinVar
CLNACC RCV000049973.1,


[PMID 15172005] A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.