rs121918284
|
0.882 |
0.080 |
11 |
61955892 |
missense variant |
G/A
|
snv
|
5.2E-04
|
3.3E-04
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.820 |
1.000 |
7 |
2008 |
2016 |
rs28940274
|
1.000 |
0.080 |
11 |
61955723 |
missense variant |
T/C
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
20 |
1998 |
2019 |
rs28941469
|
1.000 |
0.080 |
11 |
61957429 |
missense variant |
T/A
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
20 |
1998 |
2019 |
rs121918284
|
0.882 |
0.080 |
11 |
61955892 |
missense variant |
G/A
|
snv
|
5.2E-04
|
3.3E-04
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
19 |
1998 |
2012 |
rs281865239
|
0.882 |
0.080 |
11 |
61957403 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
19 |
1998 |
2015 |
rs28940273
|
0.925 |
0.080 |
11 |
61955749 |
stop gained |
G/A;C
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
19 |
1998 |
2017 |
rs28940570
|
1.000 |
0.080 |
11 |
61958159 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
19 |
1998 |
2019 |
rs121918287
|
1.000 |
0.080 |
11 |
61959892 |
missense variant |
G/A
|
snv
|
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
5 |
2008 |
2015 |
rs200277476
|
0.925 |
0.080 |
11 |
61956946 |
missense variant |
C/T
|
snv
|
2.6E-04
|
1.5E-04
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
5 |
2000 |
2017 |
rs121918289
|
1.000 |
0.080 |
11 |
61955726 |
missense variant |
G/A
|
snv
|
|
|
Autosomal dominant vitreoretinochoroidopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
3 |
2004 |
2012 |
rs1800995
|
0.851 |
0.080 |
11 |
61955906 |
missense variant |
GC/AA
|
mnv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.810 |
1.000 |
2 |
2001 |
2012 |
rs281865218
|
1.000 |
0.080 |
11 |
61951895 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
20 |
1998 |
2012 |
rs281865238
|
0.851 |
0.080 |
11 |
61957402 |
missense variant |
C/A;T
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
20 |
1998 |
2019 |
rs281865205
|
1.000 |
0.080 |
11 |
61951832 |
missense variant |
T/C;G
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
19 |
1998 |
2012 |
rs28940275
|
1.000 |
0.080 |
11 |
61951822 |
missense variant |
A/C
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
19 |
1998 |
2012 |
rs28940276
|
1.000 |
0.080 |
11 |
61951831 |
missense variant |
G/A
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
19 |
1998 |
2012 |
rs28940278
|
0.925 |
0.080 |
11 |
61951946 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
19 |
1998 |
2019 |
rs28941468
|
1.000 |
0.080 |
11 |
61959526 |
missense variant |
G/A
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
19 |
1998 |
2012 |
rs281865255
|
0.925 |
0.080 |
11 |
61959517 |
missense variant |
A/G
|
snv
|
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
18 |
1998 |
2011 |
rs121918288
|
0.925 |
0.080 |
11 |
61951928 |
missense variant |
T/C
|
snv
|
2.0E-05
|
7.0E-06
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
6 |
2008 |
2015 |
rs121918291
|
1.000 |
0.080 |
11 |
61957457 |
missense variant |
A/G
|
snv
|
|
|
Autosomal dominant vitreoretinochoroidopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
2 |
2004 |
2012 |
rs267606680
|
0.925 |
0.080 |
11 |
61956976 |
missense variant |
T/C
|
snv
|
|
|
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs1805143
|
1.000 |
0.080 |
11 |
61959519 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Vitelliform Macular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
|
0 |
|
|
rs267606676
|
0.925 |
0.080 |
11 |
61957432 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
|
0 |
|
|
rs267606677
|
0.925 |
0.080 |
11 |
61957430 |
missense variant |
A/G
|
snv
|
|
|
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
|
0 |
|
|