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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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 gird-c1a filtered variants 10 rs3736461
dbSNP Clinvar
5855403 146.77 G C PASS 0/1 9 MOTIF[MA0079.1:SP1] LOW None 0.08906 0.08906 None None None None None None GDI2|0.399169926|20.83%
View gird-c1a filtered variants 19 rs7507492
dbSNP Clinvar
11849841 358.77 C A PASS 0/1 25 MOTIF[MA0079.1:SP1] LOW None 0.30212 0.30210 None None None None None None None
View gird-c1a filtered variants 2 rs831526
dbSNP Clinvar
74153905 3127.77 C T PASS 1/1 97 MOTIF[MA0079.1:SP1] LOW None 0.99521 0.99520 None None None None None None None
View gird-c1a filtered variants 3 rs7647895
dbSNP Clinvar
120461576 856.77 T C PASS 1/1 21 MOTIF[MA0079.1:SP1] MODIFIER None 0.20088 0.20090 None None None None None None RABL3|0.587826205|12.22%,GTF2E1|0.652644262|10%
View gird-c1a filtered variants 19 rs550601112,rs3214450
dbSNP Clinvar
55964546 72.9 G GC PASS 0/1 5 MOTIF[MA0079.1:SP1] LOW None 0.00200 0.42430 None None None None None None ISOC2|0.014818901|77.28%
  • Page 1 of 1