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rs386833991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833991(A;A)
Make rs386833991(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73641907
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833991
ebirs386833991
HLIrs386833991
Exacrs386833991
Varsomers386833991
Maprs386833991
PheGenIrs386833991
hapmaprs386833991
1000 genomesrs386833991
hgdprs386833991
ensemblrs386833991
gopubmedrs386833991
geneviewrs386833991
scholarrs386833991
googlers386833991
pharmgkbrs386833991
gwascentralrs386833991
openSNPrs386833991
23andMers386833991
23andMe allrs386833991
SNP Nexus

SNPshotrs386833991
SNPdbers386833991
MSV3drs386833991
GWAS Ctlgrs386833991
Max Magnitude0
ClinVar
Risk rs386833991(A;A)
Alt rs386833991(A;A)
Reference rs386833991(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351630C>T
CLNSRC ClinVar
CLNACC RCV000049968.1,


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