RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Hirschsprung Disease ×
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: 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: rs2506004
rs2506004 		0.882 0.160 10 43086825 intron variant A/C;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.050 1.000 5 2011 2015
dbSNP: rs1800858
rs1800858 		0.851 0.160 10 43100520 synonymous variant A/C;G snv 0.73
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.040 1.000 4 1999 2014
dbSNP: rs76262710
rs76262710 		0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.030 1.000 3 1996 1998
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: rs1800861
rs1800861 		0.882 0.160 10 43118395 synonymous variant G/A;T snv 0.74
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 1999 2014
dbSNP: rs1800863
rs1800863 		0.851 0.160 10 43120185 synonymous variant C/A;G snv 1.6E-05; 0.21
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 1999 2010
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: rs377767396
rs377767396 		0.925 0.080 10 43113623 missense variant C/G;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 0.500 2 1994 1998
dbSNP: rs74799832
rs74799832 		0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 1999 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: rs1799939
rs1799939 		0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1999 1999
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: 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: 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: rs377767397
rs377767397 		0.790 0.280 10 43113628 missense variant G/A;C;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs377767398
rs377767398 		0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs377767432
rs377767432 		0.925 0.160 10 43121980 missense variant C/A;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2017 2017
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: rs79890926
rs79890926 		0.827 0.160 10 43113656 missense variant C/G;T snv 1.6E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2007 2007
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