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 |
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 |
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 |
rs1114167302
|
0.925 |
0.320 |
17 |
58216687 |
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
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1555599412
|
0.827 |
0.320 |
17 |
58213011 |
stop gained |
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 |
1 |
2011 |
2011 |
rs199874059
|
0.882 |
0.320 |
17 |
58210658 |
splice donor variant |
C/T
|
snv
|
6.0E-05
|
2.1E-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 |
1 |
2007 |
2007 |
rs201933838
|
0.882 |
0.320 |
17 |
58214740 |
splice donor variant |
C/T
|
snv
|
1.2E-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 |
1 |
2007 |
2007 |
rs386834044
|
0.851 |
0.320 |
17 |
58206501 |
frameshift variant |
-/CCTG
|
delins
|
7.2E-05
|
7.0E-06
|
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 |
1 |
2007 |
2007 |
rs386834046
|
0.882 |
0.320 |
17 |
58218620 |
frameshift variant |
AGTTGGC/-
|
delins
|
|
|
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 |
1 |
2007 |
2007 |
rs386834051
|
0.882 |
0.320 |
17 |
58219175 |
frameshift variant |
-/CCCGG
|
delins
|
6.6E-06
|
|
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 |
1 |
2006 |
2006 |
rs386834052
|
0.882 |
0.320 |
17 |
58219149 |
splice donor variant |
A/G
|
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 |
1 |
2006 |
2006 |
rs886044605
|
1.000 |
0.320 |
17 |
58216174 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
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
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
rs1376664664
|
0.882 |
0.320 |
17 |
58214739 |
splice donor variant |
A/C;G
|
snv
|
4.1E-06
|
|
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 |
|
0 |
|
|
rs1488635637
|
0.827 |
0.360 |
17 |
58208003 |
splice acceptor variant |
T/C;G
|
snv
|
|
7.0E-06
|
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 |
|
0 |
|
|
rs1555596845
|
0.882 |
0.320 |
17 |
58206493 |
frameshift variant |
GTGACAGTGCCTGTGGTCTCTGTGCGGAG/-
|
delins
|
|
|
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 |
|
0 |
|
|
rs1555596943
|
0.882 |
0.320 |
17 |
58206549 |
splice acceptor variant |
T/C
|
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 |
|
0 |
|
|
rs1555601787
|
0.882 |
0.320 |
17 |
58219230 |
start lost |
T/C
|
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 |
|
0 |
|
|
rs375170572
|
0.827 |
0.320 |
17 |
58218618 |
splice donor variant |
A/G
|
snv
|
3.2E-05
|
3.5E-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 |
|
0 |
|
|
rs386834043
|
0.851 |
0.320 |
17 |
58206553 |
splice region variant |
ATGCCATTGGGACAGCCTCAGGTTTCTGC/-
|
delins
|
|
1.3E-03
|
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 |
|
0 |
|
|
rs386834053
|
0.925 |
0.320 |
17 |
58210980 |
missense variant |
C/T
|
snv
|
2.0E-05
|
2.1E-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 |
|
0 |
|
|
rs730880323
|
1.000 |
0.320 |
17 |
58219176 |
frameshift variant |
-/CCGGG
|
delins
|
|
|
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 |
|
0 |
|
|
rs756102768
|
0.882 |
0.320 |
17 |
58212981 |
splice donor variant |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
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 |
|
0 |
|
|