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

ALMS1,
ALMS1 Alstrom syndrome, 203800 (3)

Genes at Clinical Genomics Database

ALMS1,
ALMS1 Alstrom syndrome

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 3

Export to: CSV
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ALMS1

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 18_s18 2 . 73676849 14.92 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None ALMS1|0.012791041|78.65%

FAM178B

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 18_s18 2 . 97643617 14.92 T G LowGQX;LowGQ 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.07 None None None None None None FAM178B|0.009422898|81.35%

UGGT1

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 18_s18 2 rs1699
dbSNP Clinvar
128939817 14.92 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.42792 0.42790 0.41865 None None None None None None UGGT1|0.159062304|41.71%
View 18_s18 2 rs17178720
dbSNP Clinvar
128939799 14.92 C T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.07109 0.07109 0.13617 None None None None None None UGGT1|0.159062304|41.71%
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