rs868064163, ACTL6A

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
0.700 GeneticVariation CLINVAR
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 GeneticVariation CLINVAR
Cleft anterior mitral valve leaflet
CUI: C4023295
Disease: Cleft anterior mitral valve leaflet
0.700 GeneticVariation CLINVAR
Torticollis
CUI: C0040485
Disease: Torticollis
0.700 GeneticVariation CLINVAR
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 GeneticVariation CLINVAR
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
0.700 GeneticVariation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR
Syncope
CUI: C0039070
Disease: Syncope
0.700 GeneticVariation CLINVAR
Broad nasal tip
CUI: C0426429
Disease: Broad nasal tip
0.700 GeneticVariation CLINVAR
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
0.700 GeneticVariation CLINVAR
Aplasia/Hypoplasia of the nails
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
0.700 GeneticVariation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 GeneticVariation CLINVAR
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
0.700 GeneticVariation CLINVAR