rs104893645, MATN3

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.
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
10 0.925 0.080 2 20005953 missense variant A/T snv 0.810 1.000 8 2001 2019
Multiple Epiphyseal Dysplasia
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
7 0.925 0.080 2 20005953 missense variant A/T snv 0.010 1.000 1 2013 2013