rs121434419, BMPR1B

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.
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
8 0.925 0.080 4 95154621 missense variant G/A snv 0.810 1.000 2 2003 2006
Brachydactyly type C
CUI: C1862103
Disease: Brachydactyly type C
8 0.925 0.080 4 95154621 missense variant G/A snv 0.010 1.000 1 2006 2006