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: 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: rs751572082
rs751572082 		1.000 0.080 10 43102608 missense variant G/A;C snv 4.8E-05 6.3E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1864410
rs1864410 		1.000 0.080 10 43080177 intron variant T/G snv 0.80
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2075912
rs2075912 		0.925 0.160 10 43126769 3 prime UTR variant T/C snv 0.79 0.84
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: 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: rs781362020
rs781362020 		1.000 0.080 10 43109108 missense variant T/C snv 2.8E-05 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 2011 2011
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