rs121918043
|
0.925 |
0.120 |
4 |
88046854 |
missense variant |
A/T
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1997 |
2018 |
rs1553925453
|
0.925 |
0.120 |
4 |
88038371 |
missense variant |
C/T
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1997 |
2018 |
rs2725211
|
0.925 |
0.120 |
4 |
88049223 |
intron variant |
C/T
|
snv
|
|
7.8E-02
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
2010 |
2019 |
rs2725211
|
0.925 |
0.120 |
4 |
88049223 |
intron variant |
C/T
|
snv
|
|
7.8E-02
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
2010 |
2019 |
rs2728104
|
0.925 |
0.120 |
4 |
88051854 |
intron variant |
T/C
|
snv
|
|
8.7E-02
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
2010 |
2017 |
rs2728104
|
0.925 |
0.120 |
4 |
88051854 |
intron variant |
T/C
|
snv
|
|
8.7E-02
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
2010 |
2017 |
rs2728099
|
0.925 |
0.120 |
4 |
88054586 |
intron variant |
T/C
|
snv
|
|
8.0E-02
|
Uric acid measurement (procedure)
|
|
0.800 |
1.000 |
2 |
2009 |
2017 |
rs2725220
|
|
|
4 |
88038770 |
intron variant |
G/A;C
|
snv
|
|
|
Uric acid measurement (procedure)
|
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs1131692280
|
0.925 |
0.120 |
4 |
88043458 |
splice donor variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
11 |
1998 |
2015 |
rs1553925453
|
0.925 |
0.120 |
4 |
88038371 |
missense variant |
C/T
|
snv
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
9 |
2002 |
2017 |
rs749004212
|
1.000 |
0.120 |
4 |
88038365 |
stop gained |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
7 |
1999 |
2016 |
rs1131692280
|
0.925 |
0.120 |
4 |
88043458 |
splice donor variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
5 |
2000 |
2012 |
rs121918040
|
0.925 |
0.120 |
4 |
88065479 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
1996 |
2013 |
rs1187336837
|
1.000 |
0.120 |
4 |
88007931 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
1999 |
2012 |
rs1302726543
|
0.925 |
0.120 |
4 |
88019499 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2012 |
2016 |
rs2725203
|
0.925 |
0.120 |
4 |
88074643 |
intron variant |
T/A;C
|
snv
|
|
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725203
|
0.925 |
0.120 |
4 |
88074643 |
intron variant |
T/A;C
|
snv
|
|
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725205
|
0.925 |
0.120 |
4 |
88064559 |
intron variant |
G/A
|
snv
|
|
0.30
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725205
|
0.925 |
0.120 |
4 |
88064559 |
intron variant |
G/A
|
snv
|
|
0.30
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725207
|
0.882 |
0.200 |
4 |
88058377 |
intron variant |
C/A
|
snv
|
|
0.31
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725207
|
0.882 |
0.200 |
4 |
88058377 |
intron variant |
C/A
|
snv
|
|
0.31
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725210
|
0.925 |
0.120 |
4 |
88052275 |
intron variant |
A/G
|
snv
|
|
0.34
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725210
|
0.925 |
0.120 |
4 |
88052275 |
intron variant |
A/G
|
snv
|
|
0.34
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725215
|
0.925 |
0.120 |
4 |
88040419 |
intron variant |
C/T
|
snv
|
|
8.2E-02
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |
rs2725215
|
0.925 |
0.120 |
4 |
88040419 |
intron variant |
C/T
|
snv
|
|
8.2E-02
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2010 |
2013 |