rs1057518863, COL7A1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Palmoplantar blistering
CUI: C4024876
Disease: Palmoplantar blistering
3 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
11 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0