rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.820 |
1.000 |
4 |
2011 |
2020 |
rs80338963
|
0.776 |
0.280 |
18 |
51065548 |
missense variant |
C/A;G;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
14 |
1997 |
2016 |
rs281875320
|
1.000 |
0.320 |
18 |
51078308 |
missense variant |
A/G
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2011 |
2012 |
rs281875321
|
0.925 |
0.360 |
18 |
51078307 |
missense variant |
T/C
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2011 |
2012 |
rs281875324
|
1.000 |
0.120 |
18 |
51065456 |
missense variant |
A/C;G
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
2 |
1998 |
2002 |
rs121912580
|
0.807 |
0.280 |
18 |
51067036 |
missense variant |
G/A;C;T
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2004 |
2004 |
rs121912581
|
0.925 |
0.200 |
18 |
51065521 |
missense variant |
G/A
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2004 |
2004 |
rs121912578
|
1.000 |
0.120 |
18 |
51078285 |
missense variant |
G/C
|
snv
|
|
|
Pancreatic carcinoma
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.710 |
1.000 |
3 |
2014 |
2019 |
rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
13 |
2004 |
2016 |
rs80338965
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant |
CAGA/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1998 |
2017 |
rs587783060
|
1.000 |
0.120 |
18 |
51078354 |
frameshift variant |
-/A
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
11 |
2000 |
2013 |
rs80338965
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant |
CAGA/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
11 |
1998 |
2017 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
8 |
1996 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
8 |
1998 |
2016 |
rs80338963
|
0.776 |
0.280 |
18 |
51065548 |
missense variant |
C/A;G;T
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
8 |
1996 |
2016 |
rs1057519739
|
1.000 |
0.080 |
18 |
51065518 |
missense variant |
G/A;C
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
1996 |
2007 |
rs1057519740
|
|
|
18 |
51065532 |
missense variant |
C/A
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
1996 |
2007 |
rs1057519741
|
|
|
18 |
51078417 |
missense variant |
G/T
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
1996 |
2007 |
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
2011 |
2016 |
rs281875324
|
1.000 |
0.120 |
18 |
51065456 |
missense variant |
A/C;G
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
1996 |
2007 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
7 |
1998 |
2010 |
rs1555687386
|
1.000 |
0.120 |
18 |
51076734 |
frameshift variant |
-/CCCT
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
6 |
1997 |
2012 |
rs377767360
|
0.882 |
0.240 |
18 |
51076662 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
6 |
1999 |
2015 |
rs80338963
|
0.776 |
0.280 |
18 |
51065548 |
missense variant |
C/A;G;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
6 |
1998 |
2016 |