rs1033550407
|
1.000 |
0.120 |
16 |
2111442 |
missense variant |
G/A
|
snv
|
|
2.1E-05
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516041
|
0.925 |
0.120 |
16 |
2094127 |
stop gained |
C/A;T
|
snv
|
9.4E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516202
|
1.000 |
0.120 |
16 |
2100027 |
inframe deletion |
GCT/-
|
del
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516206
|
1.000 |
0.120 |
16 |
2111624 |
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 |
|
|
rs1057518897
|
0.925 |
0.120 |
16 |
2103746 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1060499699
|
1.000 |
0.120 |
16 |
2117579 |
missense variant |
G/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 |
|
|
rs1060499702
|
1.000 |
0.120 |
16 |
2108743 |
frameshift variant |
G/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1060499704
|
1.000 |
0.120 |
16 |
2100396 |
missense variant |
C/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 |
|
|
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 |
|
|
rs1114167366
|
1.000 |
0.120 |
16 |
2097725 |
splice donor variant |
AC/-
|
delins
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1114167370
|
1.000 |
0.120 |
16 |
2118296 |
missense variant |
A/C
|
snv
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
rs1161298621
|
1.000 |
0.120 |
16 |
2106475 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1167476946
|
1.000 |
0.120 |
16 |
2092492 |
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 |
|
0 |
|
|
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 |
|
|
rs1266492292
|
1.000 |
0.120 |
16 |
2113185 |
missense variant |
C/G
|
snv
|
8.4E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1282205691
|
1.000 |
0.120 |
16 |
2118717 |
missense variant |
C/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 |
|
|
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 |
rs1286585831
|
1.000 |
0.120 |
16 |
2117844 |
stop gained |
G/A;T
|
snv
|
|
7.0E-06
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1327414405
|
1.000 |
0.120 |
16 |
2092500 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1358566538
|
1.000 |
0.120 |
16 |
2100552 |
missense variant |
C/T
|
snv
|
8.1E-06
|
|
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 |
rs1377414968
|
1.000 |
0.120 |
16 |
2109801 |
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 |
|
|
rs1383930225
|
1.000 |
0.120 |
16 |
2108919 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
POLYCYSTIC KIDNEY DISEASE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs139945204
|
1.000 |
0.120 |
16 |
2100465 |
missense variant |
T/A
|
snv
|
9.9E-04
|
1.2E-03
|
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 |