rs1060500759
|
1.000 |
0.120 |
10 |
43120162 |
stop gained |
C/T
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs143795581
|
0.851 |
0.120 |
10 |
43114596 |
missense variant |
A/C;G
|
snv
|
8.0E-06
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2011 |
rs146646971
|
0.807 |
0.120 |
10 |
43114598 |
missense variant |
G/C;T
|
snv
|
2.4E-05
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
9 |
2005 |
2017 |
rs146838520
|
0.851 |
0.120 |
10 |
43120129 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.8E-05
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1554818626
|
1.000 |
0.120 |
10 |
43112121 |
missense variant |
C/G
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1799939
|
0.658 |
0.280 |
10 |
43114671 |
missense variant |
G/A;C;T
|
snv
|
0.21
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.020 |
1.000 |
2 |
2004 |
2011 |
rs267607011
|
1.000 |
0.120 |
10 |
43120184 |
missense variant |
C/G;T
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2011 |
rs377767389
|
1.000 |
0.120 |
10 |
43112120 |
missense variant |
GC/CT
|
mnv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs377767391
|
0.827 |
0.160 |
10 |
43113627 |
missense variant |
T/A;C;G
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
8 |
1996 |
2009 |
rs377767397
|
0.790 |
0.280 |
10 |
43113628 |
missense variant |
G/A;C;T
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
13 |
1994 |
2018 |
rs377767398
|
0.807 |
0.280 |
10 |
43113628 |
missense variant |
GC/AT;CT;TT
|
mnv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
5 |
1999 |
2011 |
rs377767400
|
1.000 |
0.120 |
10 |
43113650 |
missense variant |
C/G;T
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2004 |
rs377767404
|
0.742 |
0.160 |
10 |
43114488 |
missense variant |
T/C
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2015 |
rs377767405
|
0.827 |
0.120 |
10 |
43114489 |
missense variant |
G/A;C;T
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
11 |
1995 |
2015 |
rs377767408
|
1.000 |
0.120 |
10 |
43114496 |
missense variant |
GCTGT/CGTGC
|
mnv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
3 |
1993 |
1996 |
rs377767412
|
0.790 |
0.240 |
10 |
43114547 |
synonymous variant |
G/A
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs377767438
|
1.000 |
0.120 |
10 |
43114506 |
protein altering variant |
A/GACCTGTGCCGCC
|
delins
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs377767440
|
1.000 |
0.120 |
10 |
43114598 |
protein altering variant |
G/TTCT
|
delins
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2017 |
rs377767442
|
0.827 |
0.160 |
10 |
43121967 |
missense variant |
A/G
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
11 |
1994 |
2019 |
rs74799832
|
0.662 |
0.280 |
10 |
43121968 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
8 |
1994 |
2016 |
rs75030001
|
0.807 |
0.160 |
10 |
43118458 |
missense variant |
G/C;T
|
snv
|
4.0E-06;
2.0E-05
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
12 |
1998 |
2013 |
rs75076352
|
0.689 |
0.240 |
10 |
43114500 |
missense variant |
T/A;C;G
|
snv
|
1.2E-05
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.710 |
1.000 |
49 |
1993 |
2016 |
rs75234356
|
0.716 |
0.240 |
10 |
43120144 |
missense variant |
T/G
|
snv
|
1.2E-05
|
7.0E-06
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1997 |
2019 |
rs75873440
|
0.763 |
0.200 |
10 |
43112173 |
missense variant |
G/A;T
|
snv
|
4.4E-05
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.710 |
1.000 |
10 |
2003 |
2014 |
rs75996173
|
0.716 |
0.240 |
10 |
43114501 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.730 |
0.971 |
35 |
1991 |
2017 |