rs3815891
|
1.000 |
0.040 |
10 |
77986031 |
intron variant |
A/G
|
snv
|
8.4E-02
|
0.12
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs191875469
|
0.925 |
0.280 |
10 |
78009515 |
intron variant |
C/T
|
snv
|
1.4E-03
|
1.5E-03
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs191875469
|
0.925 |
0.280 |
10 |
78009515 |
intron variant |
C/T
|
snv
|
1.4E-03
|
1.5E-03
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs201314157
|
1.000 |
0.200 |
10 |
78009682 |
splice region variant |
G/A;C;T
|
snv
|
3.1E-04;
1.1E-04;
1.7E-04
|
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
1977 |
1977 |
rs148932047
|
1.000 |
0.160 |
10 |
77993367 |
stop gained |
G/A
|
snv
|
4.8E-05
|
4.2E-05
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.710 |
1.000 |
1 |
2016 |
2016 |
rs138305578
|
1.000 |
0.160 |
10 |
77983957 |
missense variant |
T/C
|
snv
|
2.8E-05
|
6.3E-05
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.800 |
|
0 |
|
|
rs181087667
|
0.925 |
0.280 |
10 |
77993368 |
splice acceptor variant |
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs181087667
|
0.925 |
0.280 |
10 |
77993368 |
splice acceptor variant |
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs141659018
|
1.000 |
0.160 |
10 |
78022270 |
stop gained |
G/A
|
snv
|
2.4E-05
|
3.5E-05
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs267608682
|
1.000 |
0.200 |
10 |
77985961 |
missense variant |
G/A
|
snv
|
2.4E-05
|
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs778985686
|
1.000 |
0.160 |
10 |
77985206 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.800 |
1.000 |
4 |
2016 |
2018 |
rs267608670
|
0.925 |
0.240 |
10 |
78007761 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Leukodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs267608670
|
0.925 |
0.240 |
10 |
78007761 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs371703979
|
1.000 |
0.200 |
10 |
77981538 |
missense variant |
C/T
|
snv
|
1.6E-05
|
3.5E-05
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
4 |
2011 |
2014 |
rs757209071
|
1.000 |
0.160 |
10 |
77981445 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.800 |
1.000 |
4 |
2016 |
2018 |
rs141484643
|
1.000 |
0.160 |
10 |
78013649 |
splice donor variant |
C/A;G;T
|
snv
|
8.0E-06;
8.0E-06;
4.0E-06
|
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs774007232
|
1.000 |
0.160 |
10 |
78007771 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs780839834
|
1.000 |
0.200 |
10 |
78004844 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
1977 |
1977 |
rs267608671
|
1.000 |
0.200 |
10 |
78000043 |
missense variant |
T/C
|
snv
|
8.0E-06
|
7.0E-06
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.800 |
|
0 |
|
|
rs368905417
|
1.000 |
0.160 |
10 |
77984017 |
splice region variant |
A/T
|
snv
|
4.0E-06
|
7.0E-06
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1462460124
|
1.000 |
0.160 |
10 |
77984300 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
2.1E-05
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1399429058
|
1.000 |
0.160 |
10 |
77993277 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.800 |
1.000 |
4 |
2016 |
2018 |
rs890755853
|
1.000 |
0.160 |
10 |
78021855 |
splice region variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs768222183
|
1.000 |
0.160 |
10 |
77980162 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.800 |
1.000 |
4 |
2016 |
2018 |
rs1248039821
|
1.000 |
0.160 |
10 |
77977460 |
3 prime UTR variant |
G/A
|
snv
|
4.0E-06
|
|
Wiedemann-Rautenstrauch syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2018 |
2018 |