Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776961
rs587776961
SLC35A2
T 0.800 CausalMutation CLINVAR Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849

2013
dbSNP: rs587777436
rs587777436
SLC35A2
0.800 GeneticVariation UNIPROT Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849

2013
dbSNP: rs587777436
rs587777436
SLC35A2
0.800 GeneticVariation UNIPROT De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 24115232

2013
dbSNP: rs587776961
rs587776961
SLC35A2
0.800 GeneticVariation UNIPROT

dbSNP: rs587777436
rs587777436
SLC35A2
A 0.800 CausalMutation CLINVAR

dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1557044030
rs1557044030
SLC35A2
T 0.700 CausalMutation CLINVAR Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849

2013
dbSNP: rs587776962
rs587776962
SLC35A2
T 0.700 CausalMutation CLINVAR Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849

2013
dbSNP: rs1057518719
rs1057518719
SLC35A2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557042824
rs1557042824
SLC35A2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1557043131
rs1557043131
SLC35A2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569511572
rs1569511572
SLC35A2
C 0.700 CausalMutation CLINVAR

dbSNP: rs587777434
rs587777434
SLC35A2
G 0.700 CausalMutation CLINVAR

dbSNP: rs587777435
rs587777435
SLC35A2
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312860
rs869312860
SLC35A2
C 0.700 GeneticVariation CLINVAR