SMARCAL1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1, 50485
N. diseases: 109; N. variants: 22
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 216433482 | intron variant | A/G | snv | 0.21 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 216441975 | intron variant | T/G | snv | 0.23 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 11 | 2002 | 2017 | ||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 3 | 2002 | 2014 | ||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv |
|
Stomatognathic Diseases | 0.700 | 0 |