rs766335907, COMP

N. diseases: 4
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.
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.020 1.000 2 2001 2003
Multiple Epiphyseal Dysplasia
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
7 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.020 0.500 2 1999 2001
Acquired clubfoot
CUI: C0158489
Disease: Acquired clubfoot
2 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2001 2001