RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Megacolon ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554818362
rs1554818362 		1.000 10 43109163 missense variant C/T snv
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0
dbSNP: rs1564494285
rs1564494285 		0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0
dbSNP: rs537874538
rs537874538 		1.000 10 43111381 missense variant G/A snv 2.7E-04 5.6E-05
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0