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: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.730 0.971 35 1991 2017
dbSNP: rs77316810
rs77316810
0.776 0.200 10 43113654 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 0.720 1.000 40 1993 2017
dbSNP: rs76262710
rs76262710
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 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 0.720 1.000 35 1993 2016
dbSNP: rs79658334
rs79658334
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-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 0.720 1.000 35 1995 2015
dbSNP: rs75076352
rs75076352
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-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 49 1993 2016
dbSNP: rs79781594
rs79781594
0.732 0.160 10 43113649 missense variant G/A;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 0.710 1.000 26 1993 2016
dbSNP: rs77503355
rs77503355
0.776 0.160 10 43113655 missense variant G/A;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 0.710 1.000 19 1993 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: rs77939446
rs77939446
0.724 0.120 10 43113622 missense variant G/A;C;T 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 25 1994 2014
dbSNP: rs75234356
rs75234356
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-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 17 1997 2019
dbSNP: rs377767397
rs377767397
0.790 0.280 10 43113628 missense variant G/A;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 1.000 13 1994 2018
dbSNP: rs75030001
rs75030001
0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-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 12 1998 2013
dbSNP: rs377767405
rs377767405
0.827 0.120 10 43114489 missense variant G/A;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 1.000 11 1995 2015
dbSNP: rs377767442
rs377767442
0.827 0.160 10 43121967 missense variant A/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 11 1994 2019
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
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: 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: 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: 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: 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