rs114251396
|
1.000 |
0.120 |
16 |
2089813 |
missense variant |
G/A
|
snv
|
3.7E-03
|
3.3E-03
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs199476095
|
0.925 |
0.200 |
16 |
2089957 |
stop gained |
G/A;C
|
snv
|
4.1E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555444249
|
1.000 |
0.120 |
16 |
2090140 |
frameshift variant |
T/-
|
del
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs115538130
|
1.000 |
0.120 |
16 |
2090179 |
missense variant |
G/A;T
|
snv
|
9.3E-04;
4.2E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1282668884
|
1.000 |
0.120 |
16 |
2090191 |
missense variant |
G/A
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
20 |
1996 |
2009 |
rs199476102
|
1.000 |
0.120 |
16 |
2090309 |
stop gained |
C/T
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1060499718
|
1.000 |
0.120 |
16 |
2090418 |
frameshift variant |
CA/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs199476097
|
1.000 |
0.120 |
16 |
2090468 |
stop gained |
A/T
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1567146946
|
1.000 |
0.120 |
16 |
2090508 |
frameshift variant |
GGTAG/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs199476094
|
1.000 |
0.120 |
16 |
2090688 |
stop gained |
G/A
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs142768096
|
1.000 |
0.120 |
16 |
2090717 |
missense variant |
C/A;T
|
snv
|
6.1E-05;
1.2E-04
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
20 |
1996 |
2009 |
rs1218054241
|
1.000 |
0.120 |
16 |
2090776 |
stop gained |
C/A;T
|
snv
|
4.1E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555444985
|
1.000 |
0.120 |
16 |
2090781 |
stop gained |
G/A
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs886040959
|
1.000 |
0.120 |
16 |
2090962 |
frameshift variant |
AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555445585
|
1.000 |
0.120 |
16 |
2091571 |
frameshift variant |
TG/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs199476096
|
1.000 |
0.120 |
16 |
2091806 |
stop gained |
G/A
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs199476098
|
1.000 |
0.120 |
16 |
2091861 |
stop gained |
G/T
|
snv
|
4.2E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555445740
|
1.000 |
0.120 |
16 |
2091865 |
missense variant |
C/T
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1567153758
|
1.000 |
0.120 |
16 |
2092079 |
frameshift variant |
C/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555445999
|
1.000 |
0.120 |
16 |
2092113 |
frameshift variant |
-/CGTAATC
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555446033
|
1.000 |
0.120 |
16 |
2092144 |
frameshift variant |
C/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555446053
|
1.000 |
0.120 |
16 |
2092152 |
frameshift variant |
TG/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs369825780
|
1.000 |
0.120 |
16 |
2092181 |
stop gained |
G/A;C
|
snv
|
1.8E-05
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1567154953
|
1.000 |
0.120 |
16 |
2092486 |
inframe deletion |
CACCTGCCGCAGCCG/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555446330
|
1.000 |
0.120 |
16 |
2092491 |
missense variant |
C/T
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|