rs370343781
|
0.882 |
0.120 |
20 |
63687765 |
missense variant |
G/T
|
snv
|
4.9E-05
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
1.000 |
8 |
2009 |
2016 |
rs201540674
|
0.851 |
0.160 |
20 |
63695619 |
missense variant |
G/A
|
snv
|
1.6E-04
|
7.7E-05
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
6 |
2013 |
2015 |
rs398123018
|
0.925 |
0.120 |
20 |
63693160 |
missense variant |
C/A;G;T
|
snv
|
1.2E-05;
4.0E-06;
4.0E-05
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
1.000 |
6 |
2013 |
2017 |
rs1470145133
|
1.000 |
|
20 |
63693183 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs398123016
|
1.000 |
|
20 |
63690161 |
missense variant |
G/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs398123017
|
0.851 |
0.160 |
20 |
63693211 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
3.2E-05
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2017 |
rs398123019
|
1.000 |
|
20 |
63672607 |
missense variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs373740199
|
0.851 |
0.120 |
20 |
63693247 |
stop gained |
C/A;T
|
snv
|
8.0E-06;
7.2E-05
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
4 |
2013 |
2017 |
rs1161373315
|
1.000 |
|
20 |
63662876 |
stop gained |
C/A;T
|
snv
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1415449695
|
1.000 |
|
20 |
63694761 |
stop gained |
C/G;T
|
snv
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1421904176
|
1.000 |
|
20 |
63693004 |
splice donor variant |
G/T
|
snv
|
4.0E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811386
|
1.000 |
|
20 |
63688138 |
splice acceptor variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811966
|
1.000 |
|
20 |
63690212 |
splice donor variant |
T/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812178
|
1.000 |
|
20 |
63690803 |
splice acceptor variant |
A/G
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812834
|
1.000 |
|
20 |
63692803 |
splice acceptor variant |
A/C
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555813144
|
1.000 |
|
20 |
63693172 |
stop gained |
A/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555899932
|
0.925 |
|
20 |
63662886 |
stop gained |
G/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555901000
|
1.000 |
|
20 |
63667484 |
stop gained |
C/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs377024903
|
1.000 |
|
20 |
63690205 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs377461417
|
1.000 |
|
20 |
63694739 |
splice acceptor variant |
A/C;T
|
snv
|
1.7E-05;
4.2E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs398123048
|
1.000 |
|
20 |
63689821 |
missense variant |
C/G
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs398123049
|
1.000 |
|
20 |
63690178 |
missense variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs398123051
|
1.000 |
|
20 |
63688578 |
missense variant |
G/A;T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs398123052
|
0.925 |
|
20 |
63689115 |
missense variant |
G/A;T
|
snv
|
8.1E-06;
4.0E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs778734749
|
1.000 |
|
20 |
63695098 |
stop gained |
C/G;T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|