rs1055368753
|
0.925 |
0.120 |
17 |
43092010 |
missense variant |
G/A
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1055368753
|
0.925 |
0.120 |
17 |
43092010 |
missense variant |
G/A
|
snv
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1057517574
|
1.000 |
|
17 |
43090983 |
stop gained |
G/A;T
|
snv
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1057517590
|
1.000 |
|
17 |
43063370 |
frameshift variant |
A/-
|
del
|
|
|
Mammary Neoplasms
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1057517590
|
1.000 |
|
17 |
43063370 |
frameshift variant |
A/-
|
del
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1057517637
|
1.000 |
|
17 |
43047669 |
frameshift variant |
-/C
|
delins
|
4.0E-06
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
2 |
2000 |
2016 |
rs1057518636
|
1.000 |
|
17 |
43047646 |
frameshift variant |
-/A
|
ins
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1057518636
|
1.000 |
|
17 |
43047646 |
frameshift variant |
-/A
|
ins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1057518636
|
1.000 |
|
17 |
43047646 |
frameshift variant |
-/A
|
ins
|
|
|
Mammary Neoplasms
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057518639
|
0.925 |
0.200 |
17 |
43070951 |
missense variant |
A/G
|
snv
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1057518639
|
0.925 |
0.200 |
17 |
43070951 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057519558
|
0.925 |
0.200 |
17 |
43082518 |
stop gained |
C/A;G;T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057519558
|
0.925 |
0.200 |
17 |
43082518 |
stop gained |
C/A;G;T
|
snv
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1057522527
|
|
|
17 |
43076544 |
synonymous variant |
C/T
|
snv
|
|
|
Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1060502327
|
0.925 |
0.200 |
17 |
43099877 |
splice acceptor variant |
C/-
|
delins
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1060502327
|
0.925 |
0.200 |
17 |
43099877 |
splice acceptor variant |
C/-
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1060502332
|
0.925 |
0.200 |
17 |
43093401 |
frameshift variant |
A/TT
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1060502332
|
0.925 |
0.200 |
17 |
43093401 |
frameshift variant |
A/TT
|
delins
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1060502333
|
0.882 |
0.200 |
17 |
43093322 |
frameshift variant |
T/-
|
delins
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1060502333
|
0.882 |
0.200 |
17 |
43093322 |
frameshift variant |
T/-
|
delins
|
|
|
ovarian neoplasm
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1060502333
|
0.882 |
0.200 |
17 |
43093322 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1060502334
|
0.925 |
0.200 |
17 |
43093258 |
stop gained |
A/T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1060502334
|
0.925 |
0.200 |
17 |
43093258 |
stop gained |
A/T
|
snv
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1060502345
|
0.925 |
0.200 |
17 |
43091465 |
frameshift variant |
GAT/A
|
delins
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1060502345
|
0.925 |
0.200 |
17 |
43091465 |
frameshift variant |
GAT/A
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|