rs1565317399, DYNC2H1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aplasia/Hypoplasia involving the pelvis
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
0.700 CausalMutation CLINVAR
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
0.700 CausalMutation CLINVAR
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
0.700 CausalMutation CLINVAR
Short long bone
CUI: C1854912
Disease: Short long bone
0.700 CausalMutation CLINVAR
Short ribs
CUI: C0426817
Disease: Short ribs
0.700 CausalMutation CLINVAR
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
0.700 CausalMutation CLINVAR