RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
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: rs75996173
rs75996173 		0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.900 0.974 39 1993 2018
dbSNP: rs74799832
rs74799832 		0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.900 0.974 38 1994 2019
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: rs75076352
rs75076352 		0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.890 1.000 19 1994 2017
dbSNP: rs79658334
rs79658334 		0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.880 1.000 16 1996 2018
dbSNP: rs76262710
rs76262710 		0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.870 1.000 34 1993 2018
dbSNP: rs75234356
rs75234356 		0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.870 1.000 27 1993 2018
dbSNP: rs75996173
rs75996173 		0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.850 1.000 8 2002 2014
dbSNP: rs76262710
rs76262710 		0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.840 1.000 26 1993 2017
dbSNP: rs79781594
rs79781594 		0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.830 1.000 31 1993 2018
dbSNP: rs77939446
rs77939446 		0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.830 1.000 26 1994 2017
dbSNP: rs77316810
rs77316810 		0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.830 1.000 12 1994 2017
dbSNP: rs78014899
rs78014899 		0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.830 1.000 11 1996 2018
dbSNP: rs75030001
rs75030001 		0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.830 1.000 3 2012 2018
dbSNP: rs77724903
rs77724903 		0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.830 0.667 3 2010 2015
dbSNP: rs75996173
rs75996173 		0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.820 1.000 30 1993 2018
dbSNP: rs79781594
rs79781594 		0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.820 1.000 30 1993 2017
dbSNP: rs75076352
rs75076352 		0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.820 1.000 5 2005 2014
dbSNP: rs77724903
rs77724903 		0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.810 1.000 21 1993 2007
dbSNP: rs77503355
rs77503355 		0.776 0.160 10 43113655 missense variant G/A;C;T snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.810 1.000 19 1994 2017
dbSNP: rs77558292
rs77558292 		0.776 0.160 10 43113621 missense variant T/A;C;G snv
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.810 1.000 15 1996 2017
dbSNP: rs77724903
rs77724903 		0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.810 0.929 14 1993 2013
dbSNP: rs377767429
rs377767429 		0.790 0.120 10 43120120 missense variant GC/TT mnv
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.810 1.000 11 1994 2017
dbSNP: rs77709286
rs77709286 		0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.800 1.000 27 1993 2017
dbSNP: rs74799832
rs74799832 		0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		Neoplasms; Endocrine System Diseases 0.800 1.000 26 1996 2018