rs1057516728
|
1.000 |
0.120 |
15 |
90809240 |
stop gained |
C/A;T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057516774
|
1.000 |
0.120 |
15 |
90803562 |
stop gained |
G/A;T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057516956
|
1.000 |
0.120 |
15 |
90761134 |
frameshift variant |
GGAAGGTCGGCCAA/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057517154
|
1.000 |
0.120 |
15 |
90804274 |
frameshift variant |
-/A
|
delins
|
|
7.0E-06
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057517229
|
1.000 |
0.120 |
15 |
90749927 |
frameshift variant |
CTGA/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057517266
|
1.000 |
0.120 |
15 |
90761095 |
frameshift variant |
AGCA/GGC
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057517359
|
1.000 |
0.120 |
15 |
90754853 |
stop gained |
-/CTTA
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057517431
|
1.000 |
0.120 |
15 |
90761166 |
frameshift variant |
A/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1057517432
|
1.000 |
0.120 |
15 |
90761112 |
frameshift variant |
C/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1170049553
|
1.000 |
0.120 |
15 |
90749873 |
frameshift variant |
CA/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1234064430
|
1.000 |
0.120 |
15 |
90804299 |
frameshift variant |
AA/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1245531016
|
1.000 |
0.120 |
15 |
90785064 |
frameshift variant |
A/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1275708646
|
1.000 |
0.120 |
15 |
90809137 |
frameshift variant |
A/-
|
delins
|
|
7.0E-06
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1309932713
|
1.000 |
0.120 |
15 |
90790673 |
frameshift variant |
ATGGGGA/-
|
delins
|
|
1.4E-05
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1319786857
|
1.000 |
0.120 |
15 |
90798238 |
frameshift variant |
T/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1400231534
|
1.000 |
0.120 |
15 |
90766974 |
stop gained |
T/A
|
snv
|
|
7.0E-06
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1477193473
|
1.000 |
0.120 |
15 |
90760835 |
stop gained |
G/A;T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555418352
|
1.000 |
0.120 |
15 |
90749746 |
frameshift variant |
TT/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555418380
|
1.000 |
0.120 |
15 |
90749811 |
frameshift variant |
C/-
|
del
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555418701
|
1.000 |
0.120 |
15 |
90751928 |
frameshift variant |
C/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555419696
|
1.000 |
0.120 |
15 |
90760146 |
splice acceptor variant |
G/A
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555419704
|
1.000 |
0.120 |
15 |
90760173 |
frameshift variant |
C/-
|
del
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555419710
|
1.000 |
0.120 |
15 |
90760187 |
frameshift variant |
G/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555419724
|
1.000 |
0.120 |
15 |
90760210 |
frameshift variant |
A/-
|
del
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1555419742
|
1.000 |
0.120 |
15 |
90760269 |
frameshift variant |
C/-
|
del
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|