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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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