Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917817
rs121917817
0.800 GeneticVariation UNIPROT Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 10506123

1999

dbSNP: rs121917818
rs121917818
0.800 GeneticVariation UNIPROT Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 10506123

1999

dbSNP: rs121917817
rs121917817
A 0.800 CausalMutation CLINVAR

dbSNP: rs121917818
rs121917818
C 0.800 CausalMutation CLINVAR

dbSNP: rs187063864
rs187063864
T 0.700 CausalMutation CLINVAR

dbSNP: rs28937869
rs28937869
T 0.700 CausalMutation CLINVAR

dbSNP: rs375845310
rs375845310
C 0.700 CausalMutation CLINVAR

dbSNP: rs753594601
rs753594601
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255634
rs879255634
GC 0.700 CausalMutation CLINVAR