rs1555706928, SETBP1

N. diseases: 8
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.
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Large fontanelle
CUI: C0456132
Disease: Large fontanelle
3 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Nail abnormality
CUI: C0853087
Disease: Nail abnormality
11 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0