rs80356682, LAMB3

N. diseases: 7
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 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.700 1.000 12 1994 2015
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
35 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.700 0
AMELOGENESIS IMPERFECTA, TYPE IA
CUI: C4011403
Disease: AMELOGENESIS IMPERFECTA, TYPE IA
9 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.700 0
Junctional Epidermolysis Bullosa
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
9 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.040 1.000 4 1997 2005
Hypoproteinemia
CUI: C0020639
Disease: Hypoproteinemia
4 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.010 1.000 1 2002 2002
Refractory anemia, without ringed sideroblasts, without excess blasts
CUI: C2981142
Disease: Refractory anemia, without ringed sideroblasts, without excess blasts
2 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.010 1.000 1 2002 2002
Refractory anemias
CUI: C0002893
Disease: Refractory anemias
11 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.010 1.000 1 2002 2002