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 |
rs398123019
|
1.000 |
|
20 |
63672607 |
missense variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs35640778
|
|
|
20 |
63689775 |
missense variant |
G/A
|
snv
|
1.2E-02
|
1.2E-02
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs6011033
|
|
|
20 |
63691346 |
intron variant |
A/G;T
|
snv
|
|
|
Allergic Reaction
|
Immune System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs6011033
|
|
|
20 |
63691346 |
intron variant |
A/G;T
|
snv
|
|
|
Respiratory Tract Diseases
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
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 |
|
|
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 |
|
|
rs1555899932
|
0.925 |
|
20 |
63662886 |
stop gained |
G/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555899932
|
0.925 |
|
20 |
63662886 |
stop gained |
G/T
|
snv
|
|
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
|
0 |
|
|