rs1554596063, TRPS1

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.
Trichorhinophalangeal dysplasia type I
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
43 0.925 0.160 8 115604319 frameshift variant GC/- del 0.700 0
Trichorhinophalangeal Syndrome, Type III
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
14 0.925 0.160 8 115604319 frameshift variant GC/- del 0.700 0