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: rs372166543
rs372166543
COL7A1 ; UCN2
0.925 0.080 3 48565160 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.020 1.000 2 2008 2009
dbSNP: rs372166543
rs372166543
COL7A1 ; UCN2
0.925 0.080 3 48565160 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		0.010 1.000 1 2004 2004