Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912831
rs121912831
COL7A1
0.800 GeneticVariation UNIPROT Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. 8541842

1995
dbSNP: rs121912831
rs121912831
COL7A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1203706188
rs1203706188
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912856
rs121912856
COL7A1
C 0.700 CausalMutation CLINVAR

dbSNP: rs144023803
rs144023803
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs200972872
rs200972872
COL7A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs201728948
rs201728948
COL7A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs368007918
rs368007918
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs761234904
rs761234904
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs762162799
rs762162799
COL7A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs886058642
rs886058642
COL7A1
T 0.700 CausalMutation CLINVAR