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
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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 p0085_filtered 3 rs1400262
dbSNP Clinvar
136537975 403.77 G A PASS 0/1 0 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.70447 0.70450 None None None None None None SLC35G2|0.352254706|23.92%
View p0085_filtered 3 rs1400261
dbSNP Clinvar
136537977 403.77 A G PASS 0/1 0 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.70387 0.70390 None None None None None None SLC35G2|0.352254706|23.92%
View p0085_filtered 6 rs9347683
dbSNP Clinvar
163149055 1751.77 A C PASS 1/1 0 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.22384 0.22380 None None None None None None PACRG|0.635061961|10.62%
View p0085_filtered 22 rs12165902
dbSNP Clinvar
19420306 628.77 C G PASS 0/1 0 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.23922 0.23920 None None None None None None HIRA|0.42251156|19.48%,C22orf39|0.027946172|70.45%,MRPL40|0.081033007|54.99%
View p0085_filtered 19 rs3810353
dbSNP Clinvar
55691600 290.77 C G VQSRTrancheSNP99.00to99.90 0/1 0 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.18451 0.18450 None None None None None None SYT5|0.024318942|72.08%
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