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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

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
PTPN23,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
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PTPN23
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 94533-0209701724_ms_onbait 3 rs900688
dbSNP Clinvar 		47449058 8163753.3 T C PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.95387 0.95390 0.05075 None None None None None None PTPN23|0.042746364|64.87%
View 94533-0209701724_ms_onbait 3 rs900689
dbSNP Clinvar 		47452087 7799884.77 G A PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.95487 0.95490 0.04894 None None None None None None PTPN23|0.042746364|64.87%
View 94533-0209701724_ms_onbait 3 rs6780013
dbSNP Clinvar 		47452118 2705446.16 G A PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.34525 0.34520 0.34815 0.86 0.00 None None None None None None PTPN23|0.042746364|64.87%
View 94533-0209701724_ms_onbait 3 rs6789730
dbSNP Clinvar 		47454399 3229993.36 G A PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.00120 0.95470 0.04525 None None None None None None PTPN23|0.042746364|64.87%
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