rs104894409
|
|
0.827 |
0.120 |
13 |
20189332 |
missense variant
|
C/A;G;T
|
snv
|
1.6E-05;
3.6E-05;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
35 |
1998 |
2016 |
rs72474224
|
|
0.708 |
0.440 |
13 |
20189473 |
missense variant
|
C/A;T
|
snv
|
7.7E-03
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
28 |
1998 |
2016 |
rs80338950
|
|
0.752 |
0.280 |
13 |
20189031 |
missense variant
|
C/G;T
|
snv
|
6.0E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
27 |
1997 |
2015 |
rs111033190
|
|
0.925 |
0.120 |
13 |
20189487 |
missense variant
|
C/A;T
|
snv
|
3.2E-05;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
23 |
1998 |
2015 |
rs80338948
|
|
0.763 |
0.280 |
13 |
20189155 |
missense variant
|
G/A
|
snv
|
1.2E-04
|
2.0E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
20 |
1998 |
2015 |
rs111033299
|
|
0.763 |
0.280 |
13 |
20189299 |
missense variant
|
C/T
|
snv
|
4.8E-05
|
7.7E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
17 |
1998 |
2009 |
rs80338945
|
|
0.695 |
0.440 |
13 |
20189313 |
missense variant
|
A/G
|
snv
|
6.4E-04
|
6.4E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
17 |
1998 |
2014 |
rs104894397
|
|
0.882 |
0.120 |
13 |
20189353 |
missense variant
|
A/G
|
snv
|
4.0E-05
|
1.1E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
14 |
1997 |
2012 |
rs1291519904
|
|
0.925 |
0.120 |
13 |
20189325 |
missense variant
|
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
12 |
1998 |
2016 |
rs397516871
|
|
1.000 |
0.120 |
13 |
20189303 |
missense variant
|
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
12 |
1998 |
2012 |
rs779018464
|
|
0.925 |
0.120 |
13 |
20189193 |
missense variant
|
C/G;T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
12 |
1998 |
2013 |
rs80338946
|
|
1.000 |
0.120 |
13 |
20189243 |
missense variant
|
A/C
|
snv
|
1.2E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
12 |
1998 |
2013 |
rs397516875
|
|
0.925 |
0.120 |
13 |
20189197 |
stop gained
|
C/A;T
|
snv
|
6.4E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.800 |
1.000 |
8 |
1998 |
2016 |
rs80338939
|
|
0.732 |
0.280 |
13 |
20189547 |
frameshift variant
|
C/-;CC
|
delins
|
|
6.4E-03
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
35 |
1997 |
2014 |
rs35887622
|
|
0.790 |
0.200 |
13 |
20189481 |
missense variant
|
A/C;G
|
snv
|
8.7E-03
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
27 |
1997 |
2016 |
rs371024165
|
|
0.763 |
0.400 |
13 |
20189488 |
missense variant
|
G/A;T
|
snv
|
3.2E-05;
8.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
24 |
2000 |
2015 |
rs104894398
|
|
0.776 |
0.280 |
13 |
20189443 |
stop gained
|
C/A;T
|
snv
|
1.3E-04;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
23 |
1997 |
2012 |
rs143343083
|
|
1.000 |
0.120 |
13 |
20189284 |
missense variant
|
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
17 |
1999 |
2016 |
rs104894396
|
|
0.672 |
0.400 |
13 |
20189511 |
stop gained
|
C/T
|
snv
|
5.8E-04
|
1.1E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
16 |
1997 |
2015 |
rs1801002
|
|
0.925 |
0.120 |
13 |
20189547 |
missense variant
|
C/A;T
|
snv
|
9.2E-05;
7.2E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
16 |
2000 |
2015 |
rs111033295
|
|
0.925 |
0.120 |
13 |
20189217 |
missense variant
|
T/A;G
|
snv
|
6.0E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
15 |
1999 |
2016 |
rs76434661
|
|
0.763 |
0.280 |
13 |
20189166 |
missense variant
|
C/T
|
snv
|
2.9E-04
|
4.6E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
15 |
2001 |
2014 |
rs104894401
|
|
0.851 |
0.120 |
13 |
20189154 |
missense variant
|
C/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
14 |
2001 |
2015 |
rs111033293
|
|
0.763 |
0.280 |
13 |
20189581 |
start lost
|
T/A;C
|
snv
|
3.6E-05
|
4.2E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
14 |
1998 |
2015 |
rs80338940
|
|
0.763 |
0.280 |
13 |
20192782 |
splice donor variant
|
C/T
|
snv
|
|
2.3E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.700 |
1.000 |
13 |
1999 |
2015 |