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

CTNNB1,
CTNNB1 Colorectal cancer, somatic, 114500 (3)
Exudative vitreoretinopathy 7, 617572 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Medulloblastoma, somatic, 155255 (3)
Mental retardation, autosomal dominant 19, 615075 (3)
Ovarian cancer, somatic, 167000 (3)
Pilomatricoma, somatic, 132600 (3)

Genes at Clinical Genomics Database

CTNNB1,
CTNNB1 Mental retardation, autosomal dominant 19

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 3

Export to: CSV
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CPSF6

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 dnn62 snp 12 rs2305641
dbSNP Clinvar
69646914 165.77 G A PASS 0/1 28 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.42871 0.42870 0.44162 None None None None None None CPSF6|0.653941863|9.94%

CTNNB1

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 dnn62 snp 3 rs5743392
dbSNP Clinvar
41266689 735.77 C T PASS 0/1 65 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.00040 0.00040 0.00108 None None None None None None CTNNB1|0.999915618|0.18%

RNF31

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 dnn62 snp 14 rs2273913
dbSNP Clinvar
24617238 315.77 C T PASS 0/1 38 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.34345 0.34350 0.22452 None None None None None None RNF31|0.218061063|34.61%
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