rs730880297, ITGB6

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.
AMELOGENESIS IMPERFECTA, TYPE IH
CUI: C4015557
Disease: AMELOGENESIS IMPERFECTA, TYPE IH
4 0.925 0.120 2 160126416 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Nance-Horan syndrome
CUI: C0796085
Disease: Nance-Horan syndrome
20 0.925 0.120 2 160126416 stop gained G/A snv 4.0E-05 2.1E-05 0.010 1.000 1 2014 2014