Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1032335328
rs1032335328
COL7A1 ; MIR711
A 0.700 GeneticVariation CLINVAR Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. 29130490

2017
dbSNP: rs1032335328
rs1032335328
COL7A1 ; MIR711
A 0.700 GeneticVariation CLINVAR Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. 24279917

2013
dbSNP: rs1032335328
rs1032335328
COL7A1 ; MIR711
A 0.700 GeneticVariation CLINVAR Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. 10504458

1999