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: 24
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 1445140 1 rs2887285
dbSNP Clinvar
1242983 999.0 G A . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.49381 0.49380 None None None None None None ACAP3|0.021694685|73.34%
View 1445140 5 rs62356073
dbSNP Clinvar
36241922 999.0 G A . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.25839 0.25840 None None None None None None NADK2|0.558013874|13.42%
View 1445140 5 rs34647
dbSNP Clinvar
72112430 999.0 C G . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View 1445140 9 rs3013306
dbSNP Clinvar
139440845 999.0 G A . 0/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.35423 0.35420 None None None None None None None
View 1445140 12 . 1703322 999.0 Ag... AG... . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None WNT5B|0.180614898|38.96%,FBXL14|0.195540464|37.21%
View 1445140 15 rs3803354
dbSNP Clinvar
40856989 999.0 C T . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
View 1445140 17 . 48277059 999.0 ag... ag... . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None COL1A1|0.749779298|7.09%
View 1445140 18 rs8087496
dbSNP Clinvar
12308504 999.0 G A . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.97484 0.97480 None None None None None None TUBB6|0.061114418|59.56%
View 1445140 19 . 35491326 999.0 ag... aG... . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None GRAMD1A|0.103950782|50.42%
View 1445140 20 rs6122141
dbSNP Clinvar
61273717 999.0 G C . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.51558 0.51560 None None None None None None None
View 1445140 21 rs1800526
dbSNP Clinvar
45714256 999.0 G C . 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.21386 0.21390 0.14723 None None None None None None AIRE|0.006628229|83.92%
View 1445140 1 rs11264331
dbSNP Clinvar
155100265 999.0 A G . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.66673 0.66670 None None None None None None EFNA1|0.216641674|34.78%
View 1445140 1 . 156561557 999.0 gg... gG... . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None APOA1BP|0.065641707|58.46%
View 1445140 5 rs34372448
dbSNP Clinvar
1801427 999.0 C CG . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View 1445140 17 . 1388651 91.6 TGGCC TG... . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None MYO1C|0.50378708|15.67%
View 1445140 1 rs10442595
dbSNP Clinvar
233431241 999.0 G A . 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.07009 0.07009 0.09148 None None None None None None PCNXL2|0.057013658|60.67%
View 1445140 2 . 121691416 260.0 Ag... Ag... . 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None GLI2|0.838872157|4.89%
View 1445140 9 rs882812
dbSNP Clinvar
32384825 999.0 G A . 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.14117 0.14120 None None None None None None ACO1|0.412115925|20.03%
View 1445140 13 rs6650325
dbSNP Clinvar
95953289 999.0 C A . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.50419 0.50420 None None None None None None ABCC4|0.142494523|44.07%
View 1445140 13 rs9524896
dbSNP Clinvar
95953292 999.0 G A . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.50020 0.50020 None None None None None None ABCC4|0.142494523|44.07%
View 1445140 13 rs9517155
dbSNP Clinvar
98629334 999.0 G C . 1/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.63858 0.63860 None None None None None None IPO5|0.498949955|15.88%
View 1445140 17 . 33307700 999.0 GCCC GCC . 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None CCT6B|0.170692374|40.2%,LIG3|0.912616535|3.17%
View 1445140 19 rs2657929
dbSNP Clinvar
52773039 999.0 C T . 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.12320 0.12320 None None None None None None ZNF766|0.00061858|97.8%
View 1445140 22 rs4080481
dbSNP Clinvar
37905285 98.8 C A . 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.37760 0.37760 None None None None None None CARD10|0.081670514|54.84%
  • Page 1 of 1