RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
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: rs1864400
rs1864400
0.925 0.080 10 43114918 intron variant G/A;T snv 0.83
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2435357
rs2435357
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2505998
rs2505998
0.925 0.080 10 43075477 upstream gene variant A/G;T snv
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2742234
rs2742234
0.925 0.080 10 43117161 intron variant C/T snv 0.77
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs9282834
rs9282834
0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016