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

SDHB,
SDHB Pheochromocytoma, 171300 (3)
Paragangliomas 4, 115310 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Gastrointestinal stromal tumor, 606764 (3)
Cowden syndrome 2, 612359 (3)

Genes at Clinical Genomics Database

SDHB,
SDHB Paragangliomas 4
Pheochromocytoma
Gastrointestinal stromal tumor
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV

SDHB

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 1 rs2746462
dbSNP
17380497 1441.67 G T PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.95707 0.95710 0.04853 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 1 rs6691170
dbSNP
222045446 1069.61 G T PASS 0/1 93 None None None 0.25899 0.25900 None None None None None None None
View pc751_s1 1 rs3790844
dbSNP
200007432 1535.43 A G PASS 0/1 123 None None None 0.35503 0.35500 None None None None None None None
View pc751_s1 1 rs11249433
dbSNP
121280613 3083.5 A G PASS 1/1 114 None None None 0.17931 0.17930 None None None None None None None
View pc751_s1 1 rs1210110
dbSNP
14096821 417.85 T C PASS 0/1 40 None None None 0.17392 0.17390 0.17620 None None None None None None None
View pc751_s1 1 rs17401966
dbSNP
10385471 906.11 A G PASS 0/1 80 None None None 0.23263 0.23260 None None None None None None None