rs1057516044, ABCC9

N. diseases: 9
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.
Cantu syndrome
CUI: C0795905
Disease: Cantu syndrome
14 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016