rs67543427, COL1A2

N. diseases: 8
Disease: EDS VIIB ×
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 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0