Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338794
rs80338794
SLC17A5
0.730 GeneticVariation BEFREE The p.R39C has not been reported in ISSD. 16170568

2005
dbSNP: rs80338794
rs80338794
SLC17A5
0.730 GeneticVariation BEFREE Here we studied for the first time the expression, localization, and targeting of the wild-type sialin as well as two mutant polypeptides; one mimicking the Finnish founder mutation, R39C (Salla(FIN)), and the other a deletion (del268-272) found in ISSD patients using in vitro expression of the corresponding cDNA constructs. 12359136

2003
dbSNP: rs80338794
rs80338794
SLC17A5
0.730 GeneticVariation BEFREE We found a homozygous SLC17A5 mutation (R39C) in five Finnish patients with Salla disease and six different SLC17A5 mutations in six ISSD patients of different ethnic origins. 10581036

1999
dbSNP: rs80338794
rs80338794
SLC17A5
A 0.730 CausalMutation CLINVAR

dbSNP: rs794729653
rs794729653
SLC17A5
A 0.700 GeneticVariation CLINVAR Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 15805149

2005
dbSNP: rs794729653
rs794729653
SLC17A5
A 0.700 GeneticVariation CLINVAR A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 10581036

1999
dbSNP: rs119491109
rs119491109
SLC17A5
C 0.700 CausalMutation CLINVAR

dbSNP: rs119491110
rs119491110
SLC17A5
C 0.700 CausalMutation CLINVAR

dbSNP: rs201284672
rs201284672
SLC17A5
C 0.700 CausalMutation CLINVAR

dbSNP: rs80338795
rs80338795
SLC17A5
C 0.700 CausalMutation CLINVAR