rs115303435
|
1.000 |
0.040 |
20 |
63694806 |
missense variant |
G/A
|
snv
|
3.2E-03
|
1.1E-03
|
Glioma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1161373315
|
1.000 |
|
20 |
63662876 |
stop gained |
C/A;T
|
snv
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1177091623
|
1.000 |
|
20 |
63689563 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
|
0 |
|
|
rs1263776141
|
1.000 |
|
20 |
63689639 |
frameshift variant |
-/G
|
delins
|
|
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 |
|
|
rs1449687529
|
0.882 |
0.120 |
20 |
63692960 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1449687529
|
0.882 |
0.120 |
20 |
63692960 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1449687529
|
0.882 |
0.120 |
20 |
63692960 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
|
0 |
|
|
rs146221660
|
0.925 |
0.040 |
20 |
63693248 |
missense variant |
G/A;T
|
snv
|
2.8E-05;
4.0E-06
|
|
Idiopathic Pulmonary Fibrosis
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs146221660
|
0.925 |
0.040 |
20 |
63693248 |
missense variant |
G/A;T
|
snv
|
2.8E-05;
4.0E-06
|
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
|
0 |
|
|
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 |
rs151214675
|
1.000 |
0.040 |
20 |
63661882 |
missense variant |
G/A
|
snv
|
1.6E-04
|
1.9E-04
|
Age related macular degeneration
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1555811386
|
1.000 |
|
20 |
63688138 |
splice acceptor variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811742
|
1.000 |
|
20 |
63689581 |
frameshift variant |
-/C
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811762
|
1.000 |
|
20 |
63689628 |
stop gained |
C/T
|
snv
|
|
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
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 |
|
|
rs1555812228
|
1.000 |
|
20 |
63690922 |
frameshift variant |
G/-
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812480
|
1.000 |
|
20 |
63691819 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
|
|
rs1555813123
|
1.000 |
|
20 |
63693149 |
frameshift variant |
A/-
|
del
|
|
|
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 |
|
|
rs1555814044
|
1.000 |
|
20 |
63694478 |
frameshift variant |
-/C
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555814334
|
1.000 |
|
20 |
63694961 |
frameshift variant |
C/-
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|