rs868064163, ACTL6A

N. diseases: 13
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.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Aplasia/Hypoplasia of the nails
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
4 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Broad nasal tip
CUI: C0426429
Disease: Broad nasal tip
8 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Cleft anterior mitral valve leaflet
CUI: C4023295
Disease: Cleft anterior mitral valve leaflet
2 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
11 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Syncope
CUI: C0039070
Disease: Syncope
45 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Torticollis
CUI: C0040485
Disease: Torticollis
10 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0