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: 9
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 1313946 1 rs2253831
dbSNP Clinvar
237923053 222.0 C T . 1/1 0 MOTIF[MA0058.1:Max] LOW None 0.76158 0.76160 0.27402 None None None None None None RYR2|0.544008282|14.03%
View 1313946 8 rs4475500
dbSNP Clinvar
144660523 222.0 A G . 1/1 0 MOTIF[MA0058.1:Max] MODIFIER None 1.00000 1.00000 None None None None None None NAPRT|0.033021116|68.15%
View 1313946 8 rs2250895
dbSNP Clinvar
145692296 222.0 A C . 1/1 0 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View 1313946 6 rs1713862
dbSNP Clinvar
74171467 222.0 C G . 1/1 0 MOTIF[MA0058.1:Max] LOW None 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View 1313946 7 rs10628253
dbSNP Clinvar
158104819 217.0 C CAT . 0/1 0 MOTIF[MA0058.1:Max] LOW None 0.63638 0.63640 None None None None None None PTPRN2|0.133975302|45.29%
View 1313946 7 . 158104897 214.0 ca... cA... . 1/1 0 MOTIF[MA0058.1:Max] LOW None None None None None None None PTPRN2|0.133975302|45.29%
View 1313946 11 rs769440
dbSNP Clinvar
64889416 161.0 G C . 0/1 0 MOTIF[MA0058.1:Max] MODIFIER None 0.44868 0.44870 None None None None None None FAU|0.593719693|11.99%,SYVN1|0.210771547|35.48%
View 1313946 16 rs59820570
dbSNP Clinvar
83984486 136.0 G A . 1/1 0 MOTIF[MA0058.1:Max] LOW None 0.67213 0.67210 None None None None None None OSGIN1|0.025764419|71.44%
View 1313946 9 rs768959160
dbSNP Clinvar
95766268 189.0 C T . 0/1 0 MOTIF[MA0058.1:Max] MODIFIER None None None None None None None FGD3|0.008156059|82.5%
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