rs1057518733, SMARCD2

N. diseases: 7
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.
Delayed separation of umbilical cord
CUI: C1260438
Disease: Delayed separation of umbilical cord
3 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
Ear Inflammation
CUI: C0029877
Disease: Ear Inflammation
2 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
Intractable diarrhea
CUI: C0743178
Disease: Intractable diarrhea
3 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
Specific granule deficiency
CUI: C0398593
Disease: Specific granule deficiency
6 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
SPECIFIC GRANULE DEFICIENCY 2
CUI: C4479548
Disease: SPECIFIC GRANULE DEFICIENCY 2
3 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0