rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.820 |
1.000 |
4 |
2002 |
2015 |
rs386833857
|
1.000 |
0.240 |
2 |
218661516 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
2 |
2002 |
2007 |
rs386833858
|
1.000 |
0.240 |
2 |
218662973 |
missense variant |
T/C
|
snv
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
2 |
2002 |
2007 |
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.710 |
1.000 |
4 |
2001 |
2014 |
rs121908576
|
0.851 |
0.360 |
2 |
218661153 |
stop gained |
C/T
|
snv
|
1.7E-04
|
2.9E-04
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
2002 |
2012 |
rs1553598145
|
1.000 |
0.240 |
2 |
218663253 |
stop gained |
T/A
|
snv
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs1057516518
|
1.000 |
0.240 |
2 |
218662963 |
frameshift variant |
-/C
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs386833856
|
1.000 |
0.240 |
2 |
218661308 |
splice donor variant |
G/C;T
|
snv
|
4.0E-06;
1.2E-05
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs760559534
|
1.000 |
0.240 |
2 |
218662608 |
frameshift variant |
C/-;CC
|
delins
|
8.0E-06
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs779331797
|
1.000 |
0.240 |
2 |
218661854 |
stop gained |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057516255
|
1.000 |
0.240 |
2 |
218661904 |
frameshift variant |
-/A
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516346
|
1.000 |
0.240 |
2 |
218662680 |
splice donor variant |
G/A;T
|
snv
|
8.0E-06
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516786
|
1.000 |
0.240 |
2 |
218663369 |
frameshift variant |
AG/-
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516802
|
1.000 |
0.240 |
2 |
218661954 |
splice donor variant |
G/A
|
snv
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516954
|
1.000 |
0.240 |
2 |
218661547 |
splice donor variant |
T/C
|
snv
|
4.0E-06
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057517412
|
1.000 |
0.240 |
2 |
218661501 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1363475546
|
1.000 |
0.240 |
2 |
218662561 |
frameshift variant |
G/-
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553595997
|
1.000 |
0.240 |
2 |
218661040 |
frameshift variant |
C/-
|
del
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553596638
|
1.000 |
0.240 |
2 |
218661456 |
frameshift variant |
-/A
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553596761
|
1.000 |
0.240 |
2 |
218661546 |
splice donor variant |
G/A
|
snv
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553596929
|
1.000 |
0.240 |
2 |
218661770 |
frameshift variant |
G/-
|
del
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553596996
|
1.000 |
0.240 |
2 |
218661830 |
frameshift variant |
C/-
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553597934
|
1.000 |
0.240 |
2 |
218662999 |
splice donor variant |
TAGG/-
|
delins
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs201454788
|
0.925 |
0.360 |
2 |
218662661 |
stop gained |
C/T
|
snv
|
2.0E-05
|
4.9E-05
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs550497120
|
1.000 |
0.240 |
2 |
218663162 |
stop gained |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|