SOS1, SOS Ras/Rac guanine nucleotide exchange factor 1, 6654
N. diseases: 62; N. variants: 28
Source: CLINVAR ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 2 | 39051211 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | ||||||||
|
0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | |||||||
|
0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | ||||||||
|
0.925 | 0.160 | 2 | 39023134 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | ||||||||
|
0.851 | 0.200 | 2 | 39022786 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | ||||||||
|
0.882 | 0.200 | 2 | 39007168 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 0 | 2007 | 2011 | ||||||||
|
0.827 | 0.160 | 2 | 39023118 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.710 | 0.875 | 7 | 2007 | 2014 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 21 | 2002 | 2016 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 21 | 2002 | 2016 | |||||||||
|
1.000 | 2 | 39012309 | missense variant | A/C | snv |
|
0.700 | 1.000 | 21 | 2002 | 2016 | ||||||||||
|
0.851 | 0.200 | 2 | 39022786 | missense variant | T/G | snv |
|
0.700 | 1.000 | 21 | 2002 | 2016 | |||||||||
|
0.925 | 0.160 | 2 | 39056704 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 21 | 2002 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 39054822 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 21 | 2002 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 39054822 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 21 | 2002 | 2016 | |||||||||
|
0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 19 | 2007 | 2018 | |||||||
|
0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2007 | 2014 | |||||||
|
0.882 | 0.200 | 2 | 39007168 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 7 | 2007 | 2013 | ||||||||
|
0.925 | 0.160 | 2 | 39058696 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 7 | 2007 | 2014 | ||||||||
|
0.882 | 0.200 | 2 | 39023131 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2007 | 2010 | |||||||
|
0.851 | 0.200 | 2 | 39051211 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2007 | 2010 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2007 | 2011 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2007 | 2011 | ||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 5 | 2007 | 2011 |