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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
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:
ADAMTS1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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ADAMTS1
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 46651510241455_annotated 21 rs436525
dbSNP Clinvar 		28212760 3478.77 G A PASS 0/1 229 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs373460567
dbSNP Clinvar 		28215826 524.73 C CACA PASS 0/1 25 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs3838077,rs397841322
dbSNP Clinvar 		28215836 423.73 GC G PASS 0/1 25 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs370850
dbSNP Clinvar 		28216066 264.77 C T PASS 0/1 44 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs428785
dbSNP Clinvar 		28216595 971.77 C G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs445784
dbSNP Clinvar 		28216692 867.77 G T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs434857
dbSNP Clinvar 		28217178 300.77 T G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
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