RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Multiple endocrine neoplasia Type 2 ×
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: rs1060500759
rs1060500759 		1.000 0.120 10 43120162 stop gained C/T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs377767412
rs377767412 		0.790 0.240 10 43114547 synonymous variant G/A snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1554818626
rs1554818626 		1.000 0.120 10 43112121 missense variant C/G snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs377767389
rs377767389 		1.000 0.120 10 43112120 missense variant GC/CT mnv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs377767438
rs377767438 		1.000 0.120 10 43114506 protein altering variant A/GACCTGTGCCGCC delins
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs146838520
rs146838520 		0.851 0.120 10 43120129 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs77724903
rs77724903 		0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs143795581
rs143795581 		0.851 0.120 10 43114596 missense variant A/C;G snv 8.0E-06
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 2005 2011
dbSNP: rs267607011
rs267607011 		1.000 0.120 10 43120184 missense variant C/G;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs377767400
rs377767400 		1.000 0.120 10 43113650 missense variant C/G;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 1998 2004
dbSNP: rs78347871
rs78347871 		0.882 0.120 10 43121950 missense variant G/A;C;T snv 8.0E-06; 2.0E-05
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 2004 2007
dbSNP: rs1799939
rs1799939 		0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2004 2011
dbSNP: rs377767408
rs377767408 		1.000 0.120 10 43114496 missense variant GCTGT/CGTGC mnv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 3 1993 1996
dbSNP: rs377767440
rs377767440 		1.000 0.120 10 43114598 protein altering variant G/TTCT delins
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 3 2005 2017
dbSNP: rs377767398
rs377767398 		0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 5 1999 2011
dbSNP: rs79890926
rs79890926 		0.827 0.160 10 43113656 missense variant C/G;T snv 1.6E-05
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 6 1997 2011
dbSNP: rs80069458
rs80069458 		0.882 0.120 10 43113629 missense variant C/G;T snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 6 1993 2011
dbSNP: rs377767391
rs377767391 		0.827 0.160 10 43113627 missense variant T/A;C;G snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 8 1996 2009
dbSNP: rs377767404
rs377767404 		0.742 0.160 10 43114488 missense variant T/C snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 8 1997 2015
dbSNP: rs74799832
rs74799832 		0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 8 1994 2016
dbSNP: rs146646971
rs146646971 		0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 9 2005 2017
dbSNP: rs77558292
rs77558292 		0.776 0.160 10 43113621 missense variant T/A;C;G snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 9 1996 2011
dbSNP: rs75873440
rs75873440 		0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.710 1.000 10 2003 2014
dbSNP: rs77709286
rs77709286 		0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.710 1.000 10 1994 2016
dbSNP: rs78014899
rs78014899 		0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 10 1995 2008