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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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