Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518863
rs1057518863
COL7A1
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518863
rs1057518863
COL7A1
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518863
rs1057518863
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518863
rs1057518863
COL7A1
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		T 0.700 GeneticVariation CLINVAR