rs66820119, COL1A2

N. diseases: 1
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.
EDS VIIB
CUI: C1851801
Disease: EDS VIIB
7 1.000 0.160 7 94401566 splice acceptor variant G/A;C;T snv 0.700 0