rs1186161867, LAMB3

N. diseases: 3
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.
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
197 0.882 0.080 1 209628034 splice donor variant C/A;T snv 1.4E-05 0.700 1.000 1 2015 2015
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
35 0.882 0.080 1 209628034 splice donor variant C/A;T snv 1.4E-05 0.700 0
AMELOGENESIS IMPERFECTA, TYPE IA
CUI: C4011403
Disease: AMELOGENESIS IMPERFECTA, TYPE IA
9 0.882 0.080 1 209628034 splice donor variant C/A;T snv 1.4E-05 0.700 0