rs119103287
|
1.000 |
0.120 |
8 |
117837145 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1997 |
2016 |
rs119103290
|
1.000 |
0.120 |
8 |
117837146 |
missense variant |
G/A
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1997 |
2016 |
rs1554601483
|
1.000 |
0.120 |
8 |
118110209 |
missense variant |
T/C
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1997 |
2001 |
rs886039354
|
1.000 |
0.120 |
8 |
117837107 |
splice donor variant |
C/A;T
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1991 |
2009 |
rs1554578802
|
1.000 |
0.120 |
8 |
117819796 |
splice acceptor variant |
T/C
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
2000 |
2015 |
rs886039355
|
1.000 |
0.120 |
8 |
117819744 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
2000 |
2008 |
rs119103288
|
1.000 |
0.120 |
8 |
117837148 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs1554578992
|
1.000 |
0.120 |
8 |
117822463 |
splice donor variant |
A/T
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2000 |
2009 |
rs1554580162
|
1.000 |
0.120 |
8 |
117837203 |
splice acceptor variant |
T/C
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2000 |
2009 |
rs1131691623
|
1.000 |
0.120 |
8 |
117804894 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2000 |
2009 |
rs1554578798
|
1.000 |
0.120 |
8 |
117819780 |
frameshift variant |
-/G
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2009 |
2014 |
rs1554580147
|
1.000 |
0.120 |
8 |
117837128 |
missense variant |
T/C
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2007 |
2014 |
rs1554601568
|
1.000 |
0.120 |
8 |
118110829 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2009 |
2014 |
rs1554656288
|
1.000 |
0.120 |
8 |
117799894 |
frameshift variant |
A/-
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2001 |
2015 |
rs1563575654
|
1.000 |
0.120 |
8 |
117837107 |
splice donor variant |
CCTGC/-
|
del
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2000 |
2009 |
rs1563872934
|
1.000 |
0.120 |
8 |
117804773 |
frameshift variant |
A/-
|
del
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2001 |
2015 |
rs1363815113
|
1.000 |
0.120 |
8 |
117799852 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2001 |
2015 |
rs1554601504
|
1.000 |
0.120 |
8 |
118110384 |
frameshift variant |
ATGCTGGCTTTGG/-
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2002 |
2009 |
rs1554601507
|
1.000 |
0.120 |
8 |
118110399 |
frameshift variant |
-/AGCA
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1554656266
|
1.000 |
0.120 |
8 |
117799849 |
stop gained |
G/A
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1554657437
|
1.000 |
0.120 |
8 |
117807290 |
stop gained |
C/A
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1563659325
|
1.000 |
0.120 |
8 |
118110207 |
missense variant |
C/G
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1563659467
|
1.000 |
0.120 |
8 |
118110475 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1563659474
|
1.000 |
0.120 |
8 |
118110504 |
frameshift variant |
GA/-
|
delins
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs756718693
|
0.925 |
0.120 |
8 |
117799833 |
missense variant |
G/A
|
snv
|
|
|
Hereditary Multiple Exostoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |