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 |
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 |
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 |
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 |
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 |
|
|
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 |
rs1168641193
|
1.000 |
0.160 |
10 |
78029405 |
start lost |
C/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 |
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 |
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 |
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 |
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 |
rs1564613755
|
1.000 |
0.160 |
10 |
77984023 |
intron variant |
A/G
|
snv
|
|
|
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 |
rs1564623882
|
1.000 |
0.160 |
10 |
78024970 |
splice donor variant |
C/T
|
snv
|
|
|
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
|
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 |
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 |
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 |
rs1041175828
|
1.000 |
0.160 |
10 |
77984013 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
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 |
|
|
rs1564612961
|
1.000 |
0.160 |
10 |
77981546 |
frameshift variant |
AG/-
|
delins
|
|
|
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 |
|
|
rs1564617848
|
1.000 |
0.160 |
10 |
78000980 |
stop gained |
G/C
|
snv
|
|
|
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 |
|
|
rs1564620047
|
1.000 |
0.160 |
10 |
78009646 |
synonymous variant |
G/A
|
snv
|
|
|
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
|
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 |
|
|
rs267608677
|
0.925 |
0.280 |
10 |
78009519 |
intron variant |
C/T
|
snv
|
|
|
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 |
|
|
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 |
|
|