rs199476086, BMPR1A

N. diseases: 3
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.
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 0.925 0.120 10 86919316 missense variant C/A;T snv 0.800 1.000 4 2001 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.120 10 86919316 missense variant C/A;T snv 0.700 1.000 3 2001 2013
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.925 0.120 10 86919316 missense variant C/A;T snv 0.010 1.000 1 2001 2001