rs1057518731, SMARCD2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Specific granule deficiency
CUI: C0398593
Disease: Specific granule deficiency
0.700 CausalMutation CLINVAR
Intractable diarrhea
CUI: C0743178
Disease: Intractable diarrhea
0.700 CausalMutation CLINVAR
Delayed separation of umbilical cord
CUI: C1260438
Disease: Delayed separation of umbilical cord
0.700 CausalMutation CLINVAR
Ear Inflammation
CUI: C0029877
Disease: Ear Inflammation
0.700 CausalMutation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR
SPECIFIC GRANULE DEFICIENCY 2
CUI: C4479548
Disease: SPECIFIC GRANULE DEFICIENCY 2
0.700 CausalMutation CLINVAR
Pneumonia
CUI: C0032285
Disease: Pneumonia
0.700 CausalMutation CLINVAR