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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
BZRAP1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

BZRAP1
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 rs2301868
dbSNP Clinvar 		56382477 317.571 C T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.05591 0.05591 0.02830 0.10 0.62 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs9913145
dbSNP Clinvar 		56389732 237.792 T C PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.17732 0.17730 0.14659 0.91 0.00 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs2072147
dbSNP Clinvar 		56395757 161.251 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.06629 0.06629 0.04329 0.14 0.01 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs2072145
dbSNP Clinvar 		56396609 115.842 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.05791 0.05791 0.03302 0.69 0.00 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs61743272
dbSNP Clinvar 		56405024 432.359 G A PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.05132 0.05132 0.04083 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs11867412
dbSNP Clinvar 		56382512 144.69 C T PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.06709 0.06709 0.12548 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs11079346
dbSNP Clinvar 		56383744 516.37 T C PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.29034 0.29030 0.29706 1.00 0.00 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs2680704
dbSNP Clinvar 		56388238 1336.27 C G PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.26158 0.26160 0.26921 1.00 0.00 None None None None None None BZRAP1|0.092853627|52.65%
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