rs1553632357, CTNNB1

N. diseases: 5
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0