rs121434542, CDH3

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.
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
CUI: C1832162
Disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
2 0.925 0.120 16 68685288 missense variant G/A snv 4.0E-06 1.4E-05 0.800 0
Congenital hypotrichia
CUI: C4721530
Disease: Congenital hypotrichia
4 0.925 0.120 16 68685288 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005