rs863225041, 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.
Chondrodysplasia, Grebe type
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
3 0.925 0.080 4 95114733 missense variant T/C snv 0.010 1.000 1 2015 2015
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
5 0.925 0.080 4 95114733 missense variant T/C snv 0.800 0