rs1377083279
|
0.925 |
0.240 |
7 |
255998 |
missense variant |
C/T
|
snv
|
1.4E-05
|
|
Hypophosphataemic osteomalacia
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1377083279
|
0.925 |
0.240 |
7 |
255998 |
missense variant |
C/T
|
snv
|
1.4E-05
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs148276213
|
1.000 |
0.200 |
7 |
256004 |
missense variant |
T/A
|
snv
|
4.8E-03
|
5.9E-03
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs778899041
|
0.925 |
0.240 |
7 |
208916 |
missense variant |
C/T
|
snv
|
2.5E-05
|
7.0E-06
|
Multiple Sclerosis
|
Immune System Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs778899041
|
0.925 |
0.240 |
7 |
208916 |
missense variant |
C/T
|
snv
|
2.5E-05
|
7.0E-06
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
2007 |
2015 |
rs267606795
|
1.000 |
0.200 |
7 |
255869 |
missense variant |
G/C
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs730882220
|
1.000 |
0.080 |
7 |
256001 |
missense variant |
C/T
|
snv
|
7.1E-06
|
|
Cortical Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs730882220
|
1.000 |
0.080 |
7 |
256001 |
missense variant |
C/T
|
snv
|
7.1E-06
|
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs730882220
|
1.000 |
0.080 |
7 |
256001 |
missense variant |
C/T
|
snv
|
7.1E-06
|
|
Neonatal Death
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs779708323
|
1.000 |
0.200 |
7 |
208951 |
missense variant |
G/A;T
|
snv
|
4.9E-06;
9.8E-06
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051851
|
1.000 |
0.200 |
7 |
248312 |
splice region variant |
C/G
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051853
|
1.000 |
0.200 |
7 |
257003 |
splice acceptor variant |
A/G
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051854
|
1.000 |
0.200 |
7 |
246512 |
splice region variant |
G/C
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051855
|
1.000 |
0.200 |
7 |
258645 |
splice acceptor variant |
G/A
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051874
|
1.000 |
0.200 |
7 |
195685 |
missense variant |
T/A;C
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051875
|
1.000 |
0.200 |
7 |
208909 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs796051849
|
1.000 |
0.200 |
7 |
255939 |
missense variant |
T/G
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.800 |
|
0 |
|
|
rs796051850
|
1.000 |
0.200 |
7 |
259870 |
missense variant |
C/T
|
snv
|
1.4E-05
|
1.4E-05
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.800 |
|
0 |
|
|
rs796051852
|
1.000 |
0.200 |
7 |
255912 |
missense variant |
G/A
|
snv
|
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.800 |
|
0 |
|
|
rs797044462
|
1.000 |
0.200 |
7 |
248340 |
missense variant |
C/T
|
snv
|
7.1E-06
|
|
RAINE SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.800 |
|
0 |
|
|