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: rs2435357
rs2435357
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.900 0.923 13 2011 2019
dbSNP: rs2742234
rs2742234
0.925 0.080 10 43117161 intron variant C/T snv 0.77
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs77316810
rs77316810
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.760 1.000 33 1994 2017
dbSNP: rs77503355
rs77503355
0.776 0.160 10 43113655 missense variant G/A;C;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.730 1.000 3 1998 2009
dbSNP: rs77724903
rs77724903
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.720 1.000 2 2009 2013
dbSNP: rs2565200
rs2565200
0.925 0.160 10 43127485 3 prime UTR variant T/A;C snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.710 1.000 2 2009 2014
dbSNP: rs377767391
rs377767391
0.827 0.160 10 43113627 missense variant T/A;C;G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs77558292
rs77558292
0.776 0.160 10 43113621 missense variant T/A;C;G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.710 1.000 1 2013 2013
dbSNP: rs9282834
rs9282834
0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs1864400
rs1864400
0.925 0.080 10 43114918 intron variant G/A;T snv 0.83
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1864403
rs1864403
1.000 0.080 10 43109502 intron variant A/G snv 0.79
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2435342
rs2435342
1.000 0.080 10 43088808 intron variant T/C snv 0.43
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2435356
rs2435356
1.000 0.080 10 43087702 intron variant A/G;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2505533
rs2505533
1.000 0.080 10 43099005 intron variant T/A;C snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2505538
rs2505538
1.000 0.080 10 43095955 intron variant A/G snv 0.38
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2505998
rs2505998
0.925 0.080 10 43075477 upstream gene variant A/G;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2506011
rs2506011
1.000 0.080 10 43079488 intron variant T/C snv 0.38
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2506021
rs2506021
1.000 0.080 10 43088700 intron variant C/T snv 0.40
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2742236
rs2742236
1.000 0.080 10 43125103 intron variant G/A snv 0.57
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs3123655
rs3123655
1.000 0.080 10 43099746 intron variant C/G snv 0.33
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1564489315
rs1564489315
1.000 0.080 10 43100496 stop gained G/A snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1564490097
rs1564490097
1.000 0.080 10 43102444 missense variant T/C snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1564491460
rs1564491460
1.000 0.080 10 43105186 missense variant G/A snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1564500612
rs1564500612
1.000 0.080 10 43123732 frameshift variant -/T delins
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1564501934
rs1564501934
1.000 0.080 10 43126678 frameshift variant T/- del
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0