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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
BRCA2,

+ Genes associated with diseases 1

Genes at Omim

BRCA2,
BRCA2 {Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)

Genes at Clinical Genomics Database

BRCA2,
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

BRCA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View nextera4_03 03 2017_brca_13_s13_v5 13 rs206076
dbSNP Clinvar 		32915005 5995.8 G C . 1/1 184 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 rs206075
dbSNP Clinvar 		32913055 10725.9 A G . 1/1 330 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 rs169547
dbSNP Clinvar 		32929387 60238.3 T C . 1/1 1842 NON_SYNONYMOUS_CODING MODERATE None 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View nextera4_03 03 2017_brca_13_s13_v5 13 rs9534262
dbSNP Clinvar 		32936646 23757.6 T C . 1/1 714 None None None 0.53155 0.53150 0.47985 None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 . 32945411 130.566 G T . 1/1 5 None None None None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 rs3752451
dbSNP Clinvar 		32900933 11950.0 T A . 1/1 372 None None None 0.34824 0.34820 None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 rs4942486
dbSNP Clinvar 		32953388 1905.16 T C . 1/1 61 None None None None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 rs206073
dbSNP Clinvar 		32905265 735.252 G A . 1/1 27 None None None 0.97404 0.97400 None None None None None None None
View nextera4_03 03 2017_brca_13_s13_v5 13 rs206080
dbSNP Clinvar 		32920844 248.292 T C . 1/1 8 None None None 0.97404 0.97400 None None None None None None None
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