Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 5 | 42694991 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.810 | 1.000 | 9 | 1989 | 2004 | ||||||||
|
0.925 | 0.200 | 5 | 42699892 | missense variant | G/C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.810 | 1.000 | 9 | 1989 | 2004 | |||||||
|
1.000 | 0.120 | 5 | 42699896 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 9 | 1989 | 2004 | ||||||||
|
1.000 | 0.120 | 5 | 42699899 | missense variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 9 | 1989 | 2004 | ||||||||
|
1.000 | 0.120 | 5 | 42699902 | missense variant | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 9 | 1989 | 2004 | ||||||||
|
1.000 | 0.120 | 5 | 42688937 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 1995 | 1995 | ||||||
|
0.827 | 0.160 | 5 | 42699919 | missense variant | C/T | snv | 3.9E-03 | 4.1E-03 |
|
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 1995 | 1995 | ||||||
|
0.827 | 0.160 | 5 | 42699919 | missense variant | C/T | snv | 3.9E-03 | 4.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.710 | 1.000 | 9 | 1989 | 2007 | ||||||
|
1.000 | 0.120 | 5 | 42711319 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.710 | 1.000 | 0 | 2004 | 2004 | ||||||||
|
0.925 | 0.120 | 5 | 42699830 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 1.000 | 9 | 1989 | 2004 | ||||||
|
1.000 | 0.120 | 5 | 42688934 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 1991 | 1993 | |||||||
|
5 | 42473453 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 42436814 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 42684854 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.160 | 5 | 42719137 | missense variant | A/C | snv | 0.44 | 0.43 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 5 | 42694931 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 42688921 | stop gained | C/A | snv | 1.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 5 | 42699978 | synonymous variant | A/G | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 5 | 42711291 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 5 | 42711312 | stop gained | G/A;T | snv | 4.8E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 5 | 42699830 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 5 | 42629069 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 42694953 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 42694985 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 42699888 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 |