rs281874674
|
0.827 |
0.280 |
X |
108597479 |
missense variant |
G/C;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886303
|
0.851 |
0.200 |
X |
108695409 |
missense variant |
T/G
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
rs104886308
|
0.851 |
0.160 |
X |
108696350 |
missense variant |
G/A;C;T
|
snv
|
2.2E-05
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.710 |
1.000 |
1 |
1997 |
1997 |
rs78972735
|
0.882 |
0.200 |
X |
108622766 |
missense variant |
G/T
|
snv
|
3.6E-03
|
1.3E-03
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.020 |
1.000 |
2 |
2017 |
2020 |
rs104886088
|
0.882 |
0.160 |
X |
108582920 |
stop gained |
G/A;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886116
|
0.882 |
0.160 |
X |
108591635 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1569492161
|
0.882 |
0.280 |
X |
108586729 |
missense variant |
G/C
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs281874762
|
0.882 |
0.160 |
X |
108578114 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886091
|
0.925 |
0.160 |
X |
108582921 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.710 |
1.000 |
1 |
1992 |
1992 |
rs104886186
|
0.925 |
0.160 |
X |
108620303 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.710 |
1.000 |
1 |
1996 |
1996 |
rs104886302
|
0.925 |
0.160 |
X |
108695376 |
missense variant |
G/A;C
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs104886055
|
0.925 |
0.160 |
X |
108573628 |
missense variant |
G/C
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886056
|
0.925 |
0.160 |
X |
108573637 |
missense variant |
G/C;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886060
|
0.925 |
0.160 |
X |
108575937 |
missense variant |
G/A;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886061
|
0.925 |
0.160 |
X |
108575947 |
missense variant |
G/A;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886063
|
0.925 |
0.160 |
X |
108577953 |
missense variant |
G/A;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886066
|
0.925 |
0.160 |
X |
108577980 |
missense variant |
G/A;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886067
|
0.925 |
0.160 |
X |
108578078 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886068
|
0.925 |
0.160 |
X |
108578319 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886074
|
0.925 |
0.160 |
X |
108578079 |
missense variant |
G/A;T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886075
|
0.925 |
0.160 |
X |
108578087 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886076
|
0.925 |
0.160 |
X |
108578291 |
missense variant |
G/C
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886078
|
0.925 |
0.160 |
X |
108580722 |
missense variant |
G/T
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886080
|
0.925 |
0.160 |
X |
108580983 |
missense variant |
G/A
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs104886085
|
0.925 |
0.160 |
X |
108582902 |
missense variant |
G/C
|
snv
|
|
|
Alport Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|