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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
PIK3R5,

+ Genes associated with diseases 1

Genes at Omim

PIK3R5,
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)

Genes at Clinical Genomics Database

PIK3R5,
PIK3R5 Ataxia-oculomotor apraxia 3

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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PIK3R5
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 rs9915880
dbSNP Clinvar 		8792003 64.1184 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.20308 0.20310 0.30624 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs381309
dbSNP Clinvar 		8792029 388.318 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.44349 0.44350 0.49785 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs16957702
dbSNP Clinvar 		8792093 156.085 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.20308 0.20310 0.30724 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs11650737
dbSNP Clinvar 		8792171 113.825 T C PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.20308 0.20310 0.30732 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs141354792
dbSNP Clinvar 		8791494 48.2423 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.00499 0.00499 0.00077 0.31 0.02 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs394811
dbSNP Clinvar 		8792514 726.581 G A PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.44269 0.44270 0.49739 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs61753147
dbSNP Clinvar 		8809025 116.199 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.02296 0.02296 0.04001 None None None None None None PIK3R5|0.071388323|57.13%
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