rs28931614
|
0.672 |
0.520 |
4 |
1804392 |
missense variant |
G/A;C
|
snv
|
|
|
Achondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.900 |
0.981 |
53 |
1994 |
2020 |
rs4647924
|
0.600 |
0.520 |
4 |
1801844 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
4.2E-06
|
|
Muenke Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.900 |
0.933 |
15 |
1997 |
2019 |
rs78311289
|
0.689 |
0.440 |
4 |
1806162 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Thanatophoric dysplasia, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.890 |
0.909 |
11 |
1995 |
2018 |
rs28931615
|
0.732 |
0.240 |
4 |
1804426 |
missense variant |
C/A;T
|
snv
|
|
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.870 |
1.000 |
12 |
1995 |
2019 |
rs75790268
|
0.925 |
0.120 |
4 |
1804377 |
missense variant |
G/T
|
snv
|
|
|
Achondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.850 |
1.000 |
10 |
1994 |
2012 |
rs121913105
|
0.653 |
0.600 |
4 |
1806163 |
missense variant |
A/C;T
|
snv
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.850 |
1.000 |
5 |
1999 |
2018 |
rs121913105
|
0.653 |
0.600 |
4 |
1806163 |
missense variant |
A/C;T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.840 |
1.000 |
10 |
1995 |
2016 |
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
NEVUS, EPIDERMAL (disorder)
|
Neoplasms
|
0.840 |
1.000 |
4 |
2006 |
2011 |
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.830 |
0.889 |
9 |
1995 |
2011 |
rs121913485
|
0.716 |
0.400 |
4 |
1804372 |
missense variant |
A/G
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.820 |
1.000 |
8 |
1995 |
2008 |
rs121913483
|
0.649 |
0.560 |
4 |
1801841 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
1.3E-05
|
|
Malignant neoplasm of urinary bladder
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.820 |
1.000 |
4 |
1999 |
2019 |
rs121913483
|
0.649 |
0.560 |
4 |
1801841 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
1.3E-05
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
7 |
1995 |
2016 |
rs121913479
|
0.763 |
0.280 |
4 |
1804362 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
6 |
1995 |
1999 |
rs28933068
|
0.645 |
0.560 |
4 |
1805644 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
0.962 |
26 |
1996 |
2020 |
rs4647924
|
0.600 |
0.520 |
4 |
1801844 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
4.2E-06
|
|
Craniosynostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
0.944 |
18 |
1997 |
2016 |
rs121913105
|
0.653 |
0.600 |
4 |
1806163 |
missense variant |
A/C;T
|
snv
|
|
|
Achondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
6 |
1994 |
2002 |
rs121913484
|
0.851 |
0.240 |
4 |
1804365 |
missense variant |
A/T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
6 |
1995 |
1999 |
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
Malignant neoplasm of urinary bladder
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
2 |
1999 |
2001 |
rs78311289
|
0.689 |
0.440 |
4 |
1806162 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Malignant neoplasm of urinary bladder
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
2 |
1999 |
2001 |
rs121913112
|
1.000 |
0.280 |
4 |
1805561 |
missense variant |
G/A;C
|
snv
|
4.8E-05;
4.0E-06
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
1 |
2006 |
2006 |
rs121913113
|
0.882 |
0.240 |
4 |
1806076 |
missense variant |
G/A
|
snv
|
|
|
CATSHL syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
1 |
2006 |
2006 |
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
Seborrheic keratosis
|
Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
1 |
2005 |
2005 |
rs121913483
|
0.649 |
0.560 |
4 |
1801841 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
1.3E-05
|
|
Seborrheic keratosis
|
Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
1 |
2005 |
2005 |
rs121913111
|
1.000 |
0.080 |
4 |
1803725 |
missense variant |
G/A
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.800 |
|
0 |
|
|
rs121913479
|
0.763 |
0.280 |
4 |
1804362 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
NEVUS, EPIDERMAL (disorder)
|
Neoplasms
|
0.800 |
|
0 |
|
|