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 GROUPS:

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 CHR:

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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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VARIANTS PER GENE:
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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+ Genes 1

Genes:
CDK5RAP2,

+ Genes associated with diseases 1

Genes at Omim

CDK5RAP2,
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)

Genes at Clinical Genomics Database

CDK5RAP2,
CDK5RAP2 Microcephaly, primary autosomal recessive, 3

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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CDK5RAP2
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 dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2501727
dbSNP Clinvar 		123220829 967.77 A G . 0/1 71 SYNONYMOUS_CODING LOW None 0.23283 0.23280 0.18407 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4836822
dbSNP Clinvar 		123291036 1172.77 C G . 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.80112 0.80110 0.15162 0.06 0.67 2.31 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3750494
dbSNP Clinvar 		123301346 1159.77 T G . 0/1 87 SYNONYMOUS_CODING LOW None 0.11661 0.11660 0.06028 None None None None None None CDK5RAP2|0.080331777|55.08%
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