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: 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: 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: 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: rs1800860
rs1800860 		0.882 0.080 10 43111239 missense variant A/G snv 0.70 0.74
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2010 2010
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: 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: rs193922699
rs193922699 		1.000 0.080 10 43114478 splice acceptor variant A/G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: rs1183365192
rs1183365192 		0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs148935214
rs148935214 		0.882 0.240 10 43114546 missense variant C/T snv 3.2E-04 3.8E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1800862
rs1800862 		0.925 0.160 10 43119646 synonymous variant C/T snv 4.5E-02 3.9E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2002 2002
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: 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: rs76764689
rs76764689 		0.925 0.080 10 43100480 missense variant C/T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs779996040
rs779996040 		1.000 0.080 10 43119575 missense variant C/T snv 8.3E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs199529397
rs199529397 		0.925 0.080 10 43109070 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 2010 2016
dbSNP: rs76397662
rs76397662 		0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 2010 2016
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