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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
|
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 |
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 |
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 |