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 |
|
|
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 |
|
|
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 |
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 |
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 |
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 |
rs78347871
|
0.882 |
0.120 |
10 |
43121950 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06;
2.0E-05
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
2004 |
2007 |
rs78014899
|
0.742 |
0.160 |
10 |
43118392 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2008 |
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 |
rs77503355
|
0.776 |
0.160 |
10 |
43113655 |
missense variant |
G/A;C;T
|
snv
|
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.710 |
1.000 |
19 |
1993 |
2011 |
rs77558292
|
0.776 |
0.160 |
10 |
43113621 |
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 |
9 |
1996 |
2011 |
rs79890926
|
0.827 |
0.160 |
10 |
43113656 |
missense variant |
C/G;T
|
snv
|
1.6E-05
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
6 |
1997 |
2011 |
rs80069458
|
0.882 |
0.120 |
10 |
43113629 |
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 |
6 |
1993 |
2011 |
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 |
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 |
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 |
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 |
rs77724903
|
0.672 |
0.280 |
10 |
43118460 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
2.1E-03
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.010 |
< 0.001 |
1 |
2013 |
2013 |
rs77939446
|
0.724 |
0.120 |
10 |
43113622 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
25 |
1994 |
2014 |
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 |
rs79658334
|
0.662 |
0.360 |
10 |
43119548 |
missense variant |
G/A;C;T
|
snv
|
1.2E-04;
4.3E-06
|
|
Multiple endocrine neoplasia Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.720 |
1.000 |
35 |
1995 |
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 |
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 |