Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143457874
rs143457874
COL7A1 ; UCN2
0.925 0.080 3 48565636 stop gained G/A snv 4.0E-06 2.8E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.010 1.000 1 1999 1999
dbSNP: rs143457874
rs143457874
COL7A1 ; UCN2
0.925 0.080 3 48565636 stop gained G/A snv 4.0E-06 2.8E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2004 2004