rs1217053724, LAMC2

N. diseases: 2
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.
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
35 0.925 0.080 1 183243272 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
197 0.925 0.080 1 183243272 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017