rs587776717, LRP2

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.
Donnai-Barrow syndrome
CUI: C1857277
Disease: Donnai-Barrow syndrome
18 1.000 0.320 2 169256237 splice acceptor variant C/T snv 0.700 0