rs387906663
|
1.000 |
0.200 |
3 |
55474477 |
missense variant |
A/G
|
snv
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs786200925
|
0.925 |
0.200 |
3 |
55479457 |
missense variant |
C/G
|
snv
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs786200925
|
0.925 |
0.200 |
3 |
55479457 |
missense variant |
C/G
|
snv
|
|
|
Robinow Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786204836
|
0.925 |
0.200 |
3 |
55479448 |
missense variant |
T/C
|
snv
|
|
|
Robinow Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs815540
|
|
|
3 |
55483019 |
intron variant |
A/G
|
snv
|
|
0.53
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs869312850
|
1.000 |
0.200 |
3 |
55474476 |
missense variant |
C/G
|
snv
|
|
|
Robinow Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1553677967
|
1.000 |
0.200 |
3 |
55474528 |
inframe insertion |
-/CCGCAG
|
delins
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553677971
|
1.000 |
0.200 |
3 |
55474542 |
missense variant |
G/C
|
snv
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587784562
|
1.000 |
0.200 |
3 |
55474534 |
missense variant |
C/G
|
snv
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs786204836
|
0.925 |
0.200 |
3 |
55479448 |
missense variant |
T/C
|
snv
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1439009595
|
1.000 |
0.080 |
3 |
55480787 |
stop gained |
C/T
|
snv
|
|
|
Amyotrophic Lateral Sclerosis
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs504849
|
|
|
3 |
55488911 |
intron variant |
T/C;G
|
snv
|
|
|
Congenital Abnormality
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs524153
|
|
|
3 |
55491957 |
upstream gene variant |
T/A;G
|
snv
|
|
|
Congenital Abnormality
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.010 |
1.000 |
1 |
2015 |
2015 |