rs1557806222
|
1.000 |
0.160 |
1 |
2228834 |
missense variant |
A/C
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs387907303
|
1.000 |
0.160 |
1 |
2229113 |
missense variant |
G/A
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs387907304
|
1.000 |
0.160 |
1 |
2228860 |
missense variant |
C/G;T
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs387907305
|
1.000 |
0.160 |
1 |
2228867 |
missense variant |
G/A;T
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs398122889
|
1.000 |
0.160 |
1 |
2229046 |
inframe deletion |
GACCGCTCC/-
|
delins
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs398122914
|
1.000 |
0.160 |
1 |
2229046 |
inframe deletion |
TCCGACCGCTCC/-
|
del
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863223722
|
1.000 |
0.160 |
1 |
2229305 |
missense variant |
C/A;T
|
snv
|
|
|
Disproportionate tall stature
|
|
0.700 |
|
0 |
|
|
rs863223722
|
1.000 |
0.160 |
1 |
2229305 |
missense variant |
C/A;T
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869025525
|
1.000 |
0.160 |
1 |
2229118 |
missense variant |
G/A
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869312901
|
1.000 |
0.160 |
1 |
2229115 |
missense variant |
G/C
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
|
0 |
|
|
rs869312902
|
1.000 |
0.160 |
1 |
2228828 |
missense variant |
T/G
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553189986
|
1.000 |
0.160 |
1 |
2229402 |
inframe deletion |
TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/-
|
delins
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2002 |
2003 |
rs387907306
|
0.925 |
0.160 |
1 |
2228866 |
missense variant |
G/A;T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs387907306
|
0.925 |
0.160 |
1 |
2228866 |
missense variant |
G/A;T
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs387907306
|
0.925 |
0.160 |
1 |
2228866 |
missense variant |
G/A;T
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs397514589
|
1.000 |
0.160 |
1 |
2228870 |
missense variant |
C/A;G
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2012 |
2015 |
rs397514590
|
1.000 |
0.160 |
1 |
2228869 |
missense variant |
C/T
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2012 |
2015 |
rs387907306
|
0.925 |
0.160 |
1 |
2228866 |
missense variant |
G/A;T
|
snv
|
|
|
Shprintzen-Goldberg syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs11576356
|
|
|
1 |
2302522 |
intron variant |
G/A
|
snv
|
|
0.14
|
Platelet Component Distribution Width Measurement
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1692580
|
1.000 |
0.040 |
1 |
2226509 |
upstream gene variant |
T/A;C
|
snv
|
|
|
Coronary Artery Disease
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs260508
|
|
|
1 |
2255646 |
intron variant |
T/A;C;G
|
snv
|
|
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs4648819
|
|
|
1 |
2273351 |
intron variant |
G/A
|
snv
|
|
0.91
|
Electrocardiogram: P-R interval
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs61776614
|
|
|
1 |
2234967 |
intron variant |
C/A;T
|
snv
|
|
|
Physical Activity Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs377599
|
|
|
1 |
2233260 |
intron variant |
C/G;T
|
snv
|
|
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs76154380
|
|
|
1 |
2253199 |
intron variant |
C/A;T
|
snv
|
|
|
Vital capacity
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |