rs137852944
|
0.925 |
0.240 |
6 |
52083201 |
missense variant |
G/A
|
snv
|
4.5E-04
|
4.7E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.810 |
1.000 |
19 |
2002 |
2015 |
rs137852949
|
0.925 |
0.240 |
6 |
52058349 |
stop gained |
G/A;C
|
snv
|
6.6E-04;
4.0E-06
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2003 |
2010 |
rs137852944
|
0.925 |
0.240 |
6 |
52083201 |
missense variant |
G/A
|
snv
|
4.5E-04
|
4.7E-04
|
Polycystic liver disease
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs137852949
|
0.925 |
0.240 |
6 |
52058349 |
stop gained |
G/A;C
|
snv
|
6.6E-04;
4.0E-06
|
|
Polycystic liver disease
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs746972457
|
0.925 |
0.240 |
6 |
52026044 |
frameshift variant |
G/-
|
delins
|
5.1E-04
|
2.2E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs746972457
|
0.925 |
0.240 |
6 |
52026044 |
frameshift variant |
G/-
|
delins
|
5.1E-04
|
2.2E-04
|
Polycystic liver disease
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs137852944
|
0.925 |
0.240 |
6 |
52083201 |
missense variant |
G/A
|
snv
|
4.5E-04
|
4.7E-04
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs137852944
|
0.925 |
0.240 |
6 |
52083201 |
missense variant |
G/A
|
snv
|
4.5E-04
|
4.7E-04
|
Oligohydramnios
|
Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs137852944
|
0.925 |
0.240 |
6 |
52083201 |
missense variant |
G/A
|
snv
|
4.5E-04
|
4.7E-04
|
Periportal fibrosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs786204707
|
0.925 |
0.200 |
6 |
52043636 |
stop gained |
C/T
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1375765328
|
0.925 |
0.200 |
6 |
52083252 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1375765328
|
0.925 |
0.200 |
6 |
52083252 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs786204707
|
0.925 |
0.200 |
6 |
52043636 |
stop gained |
C/T
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs786204707
|
0.925 |
0.200 |
6 |
52043636 |
stop gained |
C/T
|
snv
|
|
|
Renal cyst
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs786204707
|
0.925 |
0.200 |
6 |
52043636 |
stop gained |
C/T
|
snv
|
|
|
Ventricular hypertrophy
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs797044607
|
1.000 |
0.160 |
6 |
52024787 |
frameshift variant |
C/-
|
delins
|
|
|
Cystathionine beta-Synthase Deficiency Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs142107837
|
1.000 |
0.120 |
6 |
52028349 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.8E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
16 |
2002 |
2015 |
rs760222236
|
1.000 |
0.120 |
6 |
51753281 |
missense variant |
A/G
|
snv
|
5.2E-05
|
7.0E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
16 |
2002 |
2016 |
rs369925690
|
0.925 |
0.120 |
6 |
52071009 |
missense variant |
T/C;G
|
snv
|
1.0E-04
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs1210846081
|
1.000 |
0.120 |
6 |
51959953 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
2002 |
2015 |
rs200179145
|
1.000 |
0.120 |
6 |
51903601 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
4.6E-04
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
2002 |
2016 |
rs745770404
|
0.925 |
0.120 |
6 |
52050157 |
missense variant |
C/T
|
snv
|
1.6E-05
|
1.4E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
12 |
2002 |
2015 |
rs777999875
|
1.000 |
0.120 |
6 |
52017497 |
missense variant |
T/C
|
snv
|
1.6E-05
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
12 |
2002 |
2015 |
rs1554218666
|
1.000 |
0.120 |
6 |
51748246 |
missense variant |
G/A
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
2002 |
2016 |
rs1197981811
|
1.000 |
0.120 |
6 |
52025059 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
2002 |
2015 |