Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912854
rs121912854
COL7A1
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0008767
Disease: Cicatrization
Cicatrization 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR