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: 18
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 1445140 12 rs744267
dbSNP Clinvar
108079446 999.0 G A . 0/1 0 MOTIF[MA0058.1:Max] LOW None 0.23103 0.23100 None None None None None None None
View 1445140 15 rs199524127
dbSNP Clinvar
23263234 25.2 C T . 1/1 0 MOTIF[MA0058.1:Max] LOW None 0.52716 0.52720 None None None None None None None
View 1445140 1 rs2253831
dbSNP Clinvar
237923053 999.0 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 1445140 5 rs2973727
dbSNP Clinvar
177658945 999.0 C T . 1/1 0 MOTIF[MA0058.1:Max] MODIFIER None 0.92252 0.92250 None None None None None None PHYKPL|0.050591269|62.48%
View 1445140 6 rs1713862
dbSNP Clinvar
74171467 999.0 C G . 0/1 0 MOTIF[MA0058.1:Max] LOW None 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View 1445140 6 rs3816778
dbSNP Clinvar
151773353 288.0 G C . 0/1 0 MOTIF[MA0058.1:Max] MODIFIER None 0.51937 0.51940 None None None None None None None
View 1445140 8 rs4475500
dbSNP Clinvar
144660523 999.0 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 1445140 8 rs2250895
dbSNP Clinvar
145692296 999.0 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 1445140 9 rs113642287
dbSNP Clinvar
140851344 999.0 C T . 0/1 0 MOTIF[MA0058.1:Max] LOW None 0.00859 0.00859 0.00854 None None None None None None CACNA1B|0.168604934|40.5%
View 1445140 16 rs11646653
dbSNP Clinvar
28922149 217.0 C T . 0/1 0 MOTIF[MA0058.1:Max] LOW None 0.75499 0.75500 None None None None None None RABEP2|0.084786865|54.26%
View 1445140 16 rs61764202
dbSNP Clinvar
30134679 152.0 C T . 0/1 0 MOTIF[MA0058.1:Max] MODIFIER None 0.36202 0.36200 None None None None None None MAPK3|0.988267401|1.15%
View 1445140 16 . 69951847 999.0 CC CCTC . 1/1 0 MOTIF[MA0058.1:Max] LOW None None None None None None None WWP2|0.488930934|16.36%
View 1445140 16 rs59820570
dbSNP Clinvar
83984486 999.0 G A . 0/1 0 MOTIF[MA0058.1:Max] LOW None 0.67213 0.67210 None None None None None None OSGIN1|0.025764419|71.44%
View 1445140 1 rs12145700
dbSNP Clinvar
43123855 75.0 C T . 1/1 0 MOTIF[MA0058.1:Max] LOW None 0.23363 0.23360 None None None None None None None
View 1445140 1 rs3120045
dbSNP Clinvar
43697968 999.0 G A . 1/1 0 MOTIF[MA0058.1:Max] LOW None 0.46745 0.46750 None None None None None None EBNA1BP2|0.247979458|31.72%,CFAP57|0.107626694|49.67%
View 1445140 7 rs10628253
dbSNP Clinvar
158104819 999.0 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 1445140 7 . 158104897 999.0 ca... cA... . 1/1 0 MOTIF[MA0058.1:Max] LOW None None None None None None None PTPRN2|0.133975302|45.29%
View 1445140 11 rs769440
dbSNP Clinvar
64889416 999.0 G C . 1/1 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%
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