rs747281324
|
1.000 |
0.120 |
15 |
90763098 |
missense variant |
A/G
|
snv
|
2.4E-05
|
1.4E-05
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
14 |
1995 |
2015 |
rs367543029
|
1.000 |
0.120 |
15 |
90794311 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
8.0E-06
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
9 |
1995 |
2009 |
rs137853153
|
1.000 |
0.120 |
15 |
90794254 |
missense variant |
G/T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.800 |
1.000 |
5 |
1995 |
2009 |
rs200389141
|
0.776 |
0.320 |
15 |
90761015 |
stop gained |
C/A;T
|
snv
|
4.1E-06;
1.4E-04
|
1.7E-04
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.710 |
1.000 |
10 |
2007 |
2017 |
rs200389141
|
0.776 |
0.320 |
15 |
90761015 |
stop gained |
C/A;T
|
snv
|
4.1E-06;
1.4E-04
|
1.7E-04
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
12 |
2007 |
2016 |
rs113993962
|
1.000 |
0.120 |
15 |
90766923 |
frameshift variant |
ATCTGA/TAGATTC
|
delins
|
2.0E-04
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
11 |
1995 |
2013 |
rs587779884
|
1.000 |
0.120 |
15 |
90784953 |
stop gained |
C/T
|
snv
|
6.4E-05
|
3.5E-05
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2016 |
rs113993962
|
1.000 |
0.120 |
15 |
90766923 |
frameshift variant |
ATCTGA/TAGATTC
|
delins
|
2.0E-04
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
6 |
1995 |
2013 |
rs886051551
|
1.000 |
0.120 |
15 |
90766921 |
frameshift variant |
-/T
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
6 |
1995 |
2016 |
rs373525781
|
1.000 |
0.120 |
15 |
90763016 |
stop gained |
C/T
|
snv
|
4.4E-05
|
8.4E-05
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs764086459
|
1.000 |
0.120 |
15 |
90811246 |
frameshift variant |
G/-
|
delins
|
4.0E-06
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
1997 |
2016 |
rs148969222
|
1.000 |
0.120 |
15 |
90803721 |
splice donor variant |
G/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs1567040469
|
1.000 |
0.120 |
15 |
90760149 |
stop gained |
A/T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs367543029
|
1.000 |
0.120 |
15 |
90794311 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
8.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
4 |
1995 |
2007 |
rs367543043
|
1.000 |
0.120 |
15 |
90760909 |
frameshift variant |
A/-;AA
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
1995 |
2017 |
rs373525781
|
1.000 |
0.120 |
15 |
90763016 |
stop gained |
C/T
|
snv
|
4.4E-05
|
8.4E-05
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
4 |
2007 |
2016 |
rs750293380
|
1.000 |
0.120 |
15 |
90747491 |
splice donor variant |
G/A;C;T
|
snv
|
1.3E-05;
2.6E-05;
4.3E-06;
1.3E-05
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2007 |
2016 |
rs1057516261
|
1.000 |
0.120 |
15 |
90811327 |
frameshift variant |
AGGAA/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
1997 |
2016 |
rs1057516964
|
1.000 |
0.120 |
15 |
90760657 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2018 |
rs137853152
|
1.000 |
0.120 |
15 |
90769559 |
missense variant |
C/T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
1995 |
2000 |
rs367543013
|
1.000 |
0.120 |
15 |
90750036 |
frameshift variant |
CT/-
|
delins
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2015 |
rs367543033
|
1.000 |
0.120 |
15 |
90803637 |
frameshift variant |
TT/-
|
del
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2015 |
rs587779886
|
1.000 |
0.120 |
15 |
90794359 |
splice donor variant |
T/-
|
del
|
|
2.8E-05
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2018 |
rs758311406
|
1.000 |
0.120 |
15 |
90784960 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
1995 |
2000 |
rs1057516700
|
1.000 |
0.120 |
15 |
90785079 |
stop gained |
C/T
|
snv
|
|
|
Bloom Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2015 |