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rs386833993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833993(A;A)
Make rs386833993(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73635482
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833993
ebirs386833993
HLIrs386833993
Exacrs386833993
Varsomers386833993
Maprs386833993
PheGenIrs386833993
hapmaprs386833993
1000 genomesrs386833993
hgdprs386833993
ensemblrs386833993
gopubmedrs386833993
geneviewrs386833993
scholarrs386833993
googlers386833993
pharmgkbrs386833993
gwascentralrs386833993
openSNPrs386833993
23andMers386833993
23andMe allrs386833993
SNP Nexus

SNPshotrs386833993
SNPdbers386833993
MSV3drs386833993
GWAS Ctlgrs386833993
Max Magnitude0
ClinVar
Risk rs386833993(A;A)
Alt rs386833993(A;A)
Reference rs386833993(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74345205C>T
CLNSRC ClinVar
CLNACC RCV000049970.1,


[PMID 10947946OA-icon.png] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.