rs1131692228, ACTL6B

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 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
Tracheomalacia
CUI: C0948187
Disease: Tracheomalacia
5 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0