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
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.900 0.974 39 1993 2018
dbSNP: rs75076352
rs75076352
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.890 1.000 19 1994 2017
dbSNP: rs76262710
rs76262710
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.840 1.000 26 1993 2017
dbSNP: rs77939446
rs77939446
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06
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
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.830 1.000 12 1994 2017
dbSNP: rs79781594
rs79781594
0.732 0.160 10 43113649 missense variant G/A;C;T snv
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.820 1.000 30 1993 2017
dbSNP: rs77503355
rs77503355
0.776 0.160 10 43113655 missense variant G/A;C;T snv
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
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
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.810 0.929 14 1993 2013
dbSNP: rs77709286
rs77709286
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.800 1.000 27 1993 2017
dbSNP: rs80069458
rs80069458
0.882 0.120 10 43113629 missense variant C/G;T snv
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.800 1.000 21 1993 2017
dbSNP: rs75030001
rs75030001
0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.800 1.000 12 1996 2017
dbSNP: rs78935588
rs78935588
1.000 0.120 10 43114519 missense variant C/G snv
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.800 1.000 9 1996 2017
dbSNP: rs79658334
rs79658334
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.740 1.000 17 1996 2017
dbSNP: rs75234356
rs75234356
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.720 1.000 12 1997 2015
dbSNP: rs74799832
rs74799832
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.720 1.000 7 1995 2011
dbSNP: rs377767406
rs377767406
0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.710 1.000 8 1995 2017
dbSNP: rs146646971
rs146646971
0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.710 1.000 7 2005 2018
dbSNP: rs377767405
rs377767405
0.827 0.120 10 43114489 missense variant G/A;C;T snv
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.710 1.000 1 2007 2007
dbSNP: rs143795581
rs143795581
0.851 0.120 10 43114596 missense variant A/C;G snv 8.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 5 2005 2016
dbSNP: rs78014899
rs78014899
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 5 1997 2011
dbSNP: rs1554818555
rs1554818555
1.000 0.120 10 43111455 inframe deletion GAGGGG/- delins
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs1554818784
rs1554818784
1.000 0.120 10 43113653 missense variant CT/TC mnv
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 1996 1998
dbSNP: rs377767436
rs377767436
0.925 0.120 10 43114491 protein altering variant -/ACGAGCTGTGCC delins
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 1997 2000
dbSNP: rs377767437
rs377767437
1.000 0.120 10 43114498 inframe insertion -/TGCCGCACG delins
Multiple Endocrine Neoplasia Type 2a
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 1.000 2 1998 2000