rs587776750, TRAPPC2

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.
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 1.000 0.080 X 13716614 frameshift variant AT/- del 0.700 0