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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

SMARCB1,
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
Rhabdoid tumors, somatic, 609322 (3)
{Rhabdoid predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)

Genes at Clinical Genomics Database

SMARCB1,
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV

SMARCB1

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 pc751_s1 22 rs2229354
dbSNP
24167513 1485.14 G A PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.10523 0.10520 0.10649 None None None None None None None
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 pc751_s1 22 rs5759167
dbSNP
43500212 2930.54 G T PASS 1/1 122 None None None 0.35483 0.35480 None None None None None None None
View pc751_s1 22 rs1014971
dbSNP
39332623 1071.33 C T PASS 0/1 108 None None None 0.43211 0.43210 None None None None None None None
View pc751_s1 22 rs2284063
dbSNP
38544298 2478.8 A G PASS 1/1 97 None None None 0.41833 0.41830 None None None None None None None
View pc751_s1 22 rs5768709
dbSNP
48929569 2350.4 A G PASS 1/1 94 None None None 0.30571 0.30570 None None None None None None None
View pc751_s1 22 rs36600
dbSNP
30337586 3151.94 T C PASS 1/1 122 None None None 0.81689 0.81690 None None None None None None None
View pc751_s1 22 rs738722
dbSNP
29130012 938.27 T C PASS 0/1 90 None None None 0.69868 0.69870 None None None None None None None
View pc751_s1 22 rs242076
dbSNP
33229830 357.24 A G PASS 0/1 39 None None None 0.55391 0.55390 0.42266 None None None None None None None