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.
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.710 1.000 1 1997 1997
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
4 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.700 1.000 4 1996 2000
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
15 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.700 1.000 2 1998 2010
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997