Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917818
rs121917818
B4GALT7
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
B4GALT7
C 0.800 CausalMutation CLINVAR