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 CHR:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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CADD

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+ Genes 1

Genes:
BRCA1,

+ Genes associated with diseases 1

Genes at Omim

BRCA1,
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)

Genes at Clinical Genomics Database

BRCA1,
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

BRCA1
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 sp16_961 17 rs16941
dbSNP Clinvar 		41244435 117.045 T C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.33566 0.33570 0.27903 0.17 0.45 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs1799966
dbSNP Clinvar 		41223094 132.255 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.35583 0.35580 0.29817 0.12 0.01 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs1060915
dbSNP Clinvar 		41234470 258.202 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.27956 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs16942
dbSNP Clinvar 		41244000 179.65 T C PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.35264 0.35260 0.29525 1.00 0.01 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs799917
dbSNP Clinvar 		41244936 166.233 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs16940
dbSNP Clinvar 		41245237 68.1709 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs1799949
dbSNP Clinvar 		41245466 68.0933 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%
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