rs137853105
|
0.882 |
0.160 |
17 |
58206479 |
missense variant |
A/C
|
snv
|
5.6E-05
|
2.8E-05
|
BARDET-BIEDL SYNDROME 13
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs386834048
|
0.827 |
0.320 |
17 |
58216088 |
splice region variant |
C/T
|
snv
|
1.3E-04
|
1.3E-04
|
Meckel-Gruber syndrome
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
7 |
2007 |
2017 |
rs386834043
|
0.851 |
0.320 |
17 |
58206553 |
splice region variant |
ATGCCATTGGGACAGCCTCAGGTTTCTGC/-
|
delins
|
|
1.3E-03
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
2006 |
2016 |
rs386834048
|
0.827 |
0.320 |
17 |
58216088 |
splice region variant |
C/T
|
snv
|
1.3E-04
|
1.3E-04
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
2007 |
2017 |
rs386834043
|
0.851 |
0.320 |
17 |
58206553 |
splice region variant |
ATGCCATTGGGACAGCCTCAGGTTTCTGC/-
|
delins
|
|
1.3E-03
|
Meckel-Gruber syndrome
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
5 |
2006 |
2007 |
rs386834048
|
0.827 |
0.320 |
17 |
58216088 |
splice region variant |
C/T
|
snv
|
1.3E-04
|
1.3E-04
|
BARDET-BIEDL SYNDROME 13
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs386834048
|
0.827 |
0.320 |
17 |
58216088 |
splice region variant |
C/T
|
snv
|
1.3E-04
|
1.3E-04
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs386834048
|
0.827 |
0.320 |
17 |
58216088 |
splice region variant |
C/T
|
snv
|
1.3E-04
|
1.3E-04
|
JOUBERT SYNDROME 28
|
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs201845154
|
1.000 |
0.320 |
17 |
58214760 |
missense variant |
G/A
|
snv
|
1.8E-04
|
3.4E-04
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs754279998
|
0.776 |
0.360 |
17 |
58208153 |
inframe deletion |
GAG/-
|
delins
|
2.0E-05
|
1.4E-05
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs754279998
|
0.776 |
0.360 |
17 |
58208153 |
inframe deletion |
GAG/-
|
delins
|
2.0E-05
|
1.4E-05
|
JOUBERT SYNDROME 28
|
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs754279998
|
0.776 |
0.360 |
17 |
58208153 |
inframe deletion |
GAG/-
|
delins
|
2.0E-05
|
1.4E-05
|
Meckel-Gruber syndrome
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs754279998
|
0.776 |
0.360 |
17 |
58208153 |
inframe deletion |
GAG/-
|
delins
|
2.0E-05
|
1.4E-05
|
BARDET-BIEDL SYNDROME 13
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs754279998
|
0.776 |
0.360 |
17 |
58208153 |
inframe deletion |
GAG/-
|
delins
|
2.0E-05
|
1.4E-05
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs863225205
|
0.925 |
0.320 |
17 |
58219176 |
missense variant |
C/A
|
snv
|
|
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs863225208
|
0.925 |
0.320 |
17 |
58210988 |
missense variant |
C/T
|
snv
|
|
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs863225210
|
0.925 |
0.320 |
17 |
58207906 |
missense variant |
G/A
|
snv
|
|
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs386834043
|
0.851 |
0.320 |
17 |
58206553 |
splice region variant |
ATGCCATTGGGACAGCCTCAGGTTTCTGC/-
|
delins
|
|
1.3E-03
|
JOUBERT SYNDROME 28
|
|
0.700 |
1.000 |
2 |
2006 |
2012 |
rs762668200
|
0.882 |
0.320 |
17 |
58206543 |
splice acceptor variant |
-/C
|
delins
|
6.5E-05
|
7.0E-06
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2007 |
2007 |
rs762668200
|
0.882 |
0.320 |
17 |
58206543 |
splice acceptor variant |
-/C
|
delins
|
6.5E-05
|
7.0E-06
|
Meckel-Gruber syndrome
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
2 |
2007 |
2007 |
rs1114167302
|
0.925 |
0.320 |
17 |
58216687 |
missense variant |
C/A
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs111786708
|
1.000 |
0.040 |
17 |
58211816 |
intron variant |
T/C
|
snv
|
|
4.2E-03
|
response to bronchodilator
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs111786708
|
1.000 |
0.040 |
17 |
58211816 |
intron variant |
T/C
|
snv
|
|
4.2E-03
|
Chronic Obstructive Airway Disease
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs140543894
|
1.000 |
0.040 |
17 |
58211748 |
intron variant |
T/G
|
snv
|
|
4.2E-03
|
response to bronchodilator
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs140543894
|
1.000 |
0.040 |
17 |
58211748 |
intron variant |
T/G
|
snv
|
|
4.2E-03
|
Chronic Obstructive Airway Disease
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |