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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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
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Genes at Omim

DEPDC5, LTBP2, OTOF,
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)

Genes at Clinical Genomics Database

DEPDC5, LTBP2, OTOF,
DEPDC5 Epilepsy, familial focal, with variable foci
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
OTOF Deafness, autosomal recessive 9
Neuropathy, autosomal recessive, 1

Genes at HGMD

Summary

Number of Variants: 287
Number of Genes: 4

Export to: CSV

DEPDC5

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 gordonsepilepsy normalized 2486 22 rs5749334
dbSNP Clinvar
32211412 484.37 A C . 0/1 10 MOTIF[MA0065.2:PPARG] MODIFIER None 0.66594 0.66590 0.38232 None None None None None None DEPDC5|0.189227738|37.92%

FAM210B

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 gordonsepilepsy normalized 2486 20 rs17362677
dbSNP Clinvar
54935242 1824.17 A T . 0/1 144 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10184 0.10180 0.00 None None None None None None FAM210B|0.003888312|87.18%

LTBP2

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 gordonsepilepsy normalized 2486 14 rs77172932
dbSNP Clinvar
74969268 2299.18 C T . 0/1 60 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02556 0.02556 0.00 None None None None None None LTBP2|0.184719306|38.39%

OTOF

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 gordonsepilepsy normalized 2486 2 rs41286015
dbSNP Clinvar
26695354 1231.69 C T . 0/1 113 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02955 0.02955 0.04098 None None None None None None OTOF|0.276995646|29.35%
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 gordonsepilepsy normalized 2486 1 rs2251098
dbSNP Clinvar
3566706 779.7 G A . 0/1 15 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View gordonsepilepsy normalized 2486 1 . 6550113 31.95 G T . 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None PLEKHG5|0.089142176|53.41%
View gordonsepilepsy normalized 2486 1 rs2027222
dbSNP Clinvar
9084924 5680.37 T C . 0/1 46 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View gordonsepilepsy normalized 2486 1 rs16849152
dbSNP Clinvar
15921774 58.65 A C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23722 0.23720 None None None None None None None
View gordonsepilepsy normalized 2486 1 rs2863442
dbSNP Clinvar
16384353 231.34 T C . 1/1 3 MOTIF[MA0159.1:RXR] MODIFIER None None None None None None None FAM131C|0.04418274|64.46%
View gordonsepilepsy normalized 2486 1 rs717863
dbSNP Clinvar
16563635 302.28 A G . 1/1 3 MOTIF[MA0062.2:Gabp] MODIFIER None 0.71106 0.71110 None None None None None None RSG1|0.106344274|49.9%
View gordonsepilepsy normalized 2486 1 rs78886584
dbSNP Clinvar
16859325 155.8 A G . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.64856 0.64860 None None None None None None None
View gordonsepilepsy normalized 2486 1 rs6698704
dbSNP Clinvar
16862186 932.72 G A . 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 1 rs11577583
dbSNP Clinvar
23286224 482.29 T C . 1/1 3 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.40056 0.40060 None None None None None None LACTBL1|0.128592718|46.08%
View gordonsepilepsy normalized 2486 1 rs2742946
dbSNP Clinvar
23886073 381.05 T C . 0/1 5 MOTIF[MA0079.2:SP1] MODIFIER None 0.43510 0.43510 None None None None None None ID3|0.770651918|6.54%
View gordonsepilepsy normalized 2486 1 rs4360494
dbSNP Clinvar
38455891 1156.7 G C . 0/1 20 MOTIF[MA0139.1:CTCF] MODIFIER None 0.37660 0.37660 None None None None None None SF3A3|0.722961805|7.89%
View gordonsepilepsy normalized 2486 1 rs2490951
dbSNP Clinvar
39696647 1045.23 G A . 1/1 1 MOTIF[MA0093.1:USF1] MODIFIER None 0.95647 0.95650 None None None None None None MACF1|0.867662396|4.28%
View gordonsepilepsy normalized 2486 1 rs1969878
dbSNP Clinvar
44569269 4062.17 T C . 0/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.31030 0.31030 None None None None None None None
View gordonsepilepsy normalized 2486 1 rs1547180
dbSNP Clinvar
46768408 54.65 T C . 1/1 2 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.73063 0.73060 None None None None None None LRRC41|0.273288101|29.63%
View gordonsepilepsy normalized 2486 1 rs644428
dbSNP Clinvar
97737704 43.65 C T . 1/1 2 MOTIF[MA0148.1:FOXA1] MODIFIER None 0.74241 0.74240 None None None None None None DPYD|0.966314405|1.82%
View gordonsepilepsy normalized 2486 1 rs56375229
dbSNP Clinvar
120612154 612.6 C G . 0/1 45 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View gordonsepilepsy normalized 2486 1 rs55899574
dbSNP Clinvar
120612163 623.84 C A . 0/1 41 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View gordonsepilepsy normalized 2486 1 rs151007
dbSNP Clinvar
148902223 754.72 G A . 0/1 44 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 1 rs2531506
dbSNP Clinvar
148902392 2173.72 G A . 0/1 72 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 1 rs151005
dbSNP Clinvar
148902406 217.18 C T . 0/1 61 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 1 rs13376441
dbSNP Clinvar
149105999 102.69 G T . 0/1 20 MOTIF[MA0139.1:CTCF] MODIFIER None 0.04932 0.04932 None None None None None None None
View gordonsepilepsy normalized 2486 1 rs12131289
dbSNP Clinvar
156446450 1038.03 C T . 0/1 18 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.57149 0.57150 None None None None None None MEF2D|0.599412285|11.77%
View gordonsepilepsy normalized 2486 1 rs12733819
dbSNP Clinvar
158087749 65.5 G T . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10763 0.10760 None None None None None None None
View gordonsepilepsy normalized 2486 1 rs4656972
dbSNP Clinvar
160921360 53.65 G C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47564 0.47560 None None None None None None ITLN2|0.005821717|84.8%
View gordonsepilepsy normalized 2486 1 rs3738798
dbSNP Clinvar
212965469 5314.23 C T . 1/1 63 MOTIF[MA0065.1:PPARG] MODIFIER None 0.23542 0.23540 None None None None None None TATDN3|0.205566411|36.05%
View gordonsepilepsy normalized 2486 1 rs907187
dbSNP Clinvar
226595647 2467.17 C G . 0/1 157 MOTIF[MA0024.1:E2F1] MODIFIER None 0.19908 0.19910 0.11910 None None None None None None PARP1|0.909670584|3.25%
View gordonsepilepsy normalized 2486 1 rs10927083
dbSNP Clinvar
236109373 103.51 C A . 1/1 2 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.25719 0.25720 None None None None None None None
View gordonsepilepsy normalized 2486 2 rs1640001
dbSNP Clinvar
91809607 386.33 T C . 0/1 18 MOTIF[MA0159.1:RXR] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 1 rs6701018
dbSNP Clinvar
248100333 520.13 G A . 0/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38079 0.38080 None None None None None None None
View gordonsepilepsy normalized 2486 2 rs12692386
dbSNP Clinvar
9695906 398.94 A G . 1/1 8 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60883 0.60880 None None None None None None ADAM17|0.398835803|20.86%
View gordonsepilepsy normalized 2486 2 rs2303917
dbSNP Clinvar
10092133 181.52 G A . 1/1 4 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.08466 0.08466 None None None None None None GRHL1|0.34343602|24.6%
View gordonsepilepsy normalized 2486 2 rs113179912
dbSNP Clinvar
10829770 391.08 C A . 0/1 23 MOTIF[MA0062.2:Gabp] MODIFIER None 0.00759 0.00759 None None None None None None NOL10|0.402816152|20.6%
View gordonsepilepsy normalized 2486 2 rs3731838
dbSNP Clinvar
38960927 1048.37 G A . 1/1 20 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.63898 0.63900 None None None None None None GALM|0.264774088|30.32%
View gordonsepilepsy normalized 2486 2 rs555443073
dbSNP Clinvar
47420538 40.9 C G . 0/1 3 MOTIF[MA0047.1:FOXA2] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 2 rs1148593
dbSNP Clinvar
97711764 801.84 A G . 1/1 4 MOTIF[MA0014.1:Pax5] MODIFIER None 0.42113 0.42110 None None None None None None None
View gordonsepilepsy normalized 2486 2 rs11692131
dbSNP Clinvar
109648041 90.95 T A . 1/1 4 MOTIF[MA0147.1:Cmyc] MODIFIER None 0.56230 0.56230 None None None None None None None
View gordonsepilepsy normalized 2486 2 rs4848694
dbSNP Clinvar
121942213 190.21 T C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.84705 0.84700 None None None None None None None
View gordonsepilepsy normalized 2486 2 rs1425043
dbSNP Clinvar
160471797 80.19 T G . 1/1 3 MOTIF[MA0079.2:SP1] MODIFIER None 0.91334 0.91330 None None None None None None BAZ2B|0.746527819|7.18%
View gordonsepilepsy normalized 2486 2 . 160763022 32.43 A T . 0/1 5 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 2 rs1823715
dbSNP Clinvar
169312649 254.53 T C . 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99281 0.99280 None None None None None None CERS6|0.366731817|22.98%
View gordonsepilepsy normalized 2486 2 rs7564882
dbSNP Clinvar
209134025 979.94 A G . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96386 0.96390 None None None None None None PIKFYVE|0.407766308|20.32%
View gordonsepilepsy normalized 2486 2 rs7605498
dbSNP Clinvar
209134035 1060.87 T C . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00060 0.96310 None None None None None None PIKFYVE|0.407766308|20.32%
View gordonsepilepsy normalized 2486 2 rs524012
dbSNP Clinvar
219433273 102.8 T G . 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None 0.66274 0.66270 None None None None None None None
View gordonsepilepsy normalized 2486 2 rs138892215
dbSNP Clinvar
220388279 32.67 C T . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00240 0.00240 None None None None None None ASIC4|0.158324569|41.82%
View gordonsepilepsy normalized 2486 2 rs10933640
dbSNP Clinvar
241813782 58.51 G A . 1/1 2 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.47364 0.47360 None None None None None None AGXT|0.028700088|70.08%
View gordonsepilepsy normalized 2486 3 rs33933049
dbSNP Clinvar
8153070 37.65 A T . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10264 0.10260 None None None None None None None
View gordonsepilepsy normalized 2486 3 rs9881832
dbSNP Clinvar
12829036 1109.59 C T . 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36582 0.36580 None None None None None None None
View gordonsepilepsy normalized 2486 3 . 47620218 83.06 C G . 1/1 3 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None CSPG5|0.149692966|43.08%
View gordonsepilepsy normalized 2486 4 rs62275438
dbSNP Clinvar
3578345 50.94 G A . 0/1 4 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 4 rs4974623
dbSNP Clinvar
1404415 343.54 A G . 1/1 3 MOTIF[MA0162.1:Egr1] MODIFIER None 0.47943 0.47940 None None None None None None None
View gordonsepilepsy normalized 2486 4 rs140058162
dbSNP Clinvar
3566925 61.31 T C . 1/1 2 MOTIF[MA0093.1:USF1] MODIFIER None 0.10883 0.10880 None None None None None None None
View gordonsepilepsy normalized 2486 4 rs149900220
dbSNP Clinvar
8888947 43.31 A G . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29133 0.29130 None None None None None None None
View gordonsepilepsy normalized 2486 4 rs7692513
dbSNP Clinvar
40022862 789.8 T C . 0/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.08427 0.08427 None None None None None None None
View gordonsepilepsy normalized 2486 5 rs11745573
dbSNP Clinvar
1801432 7352.68 A G . 1/1 42 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View gordonsepilepsy normalized 2486 5 rs2607301
dbSNP Clinvar
10250047 266.92 C A . 0/1 25 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None CCT5|0.365250197|23.05%
View gordonsepilepsy normalized 2486 5 rs34647
dbSNP Clinvar
72112430 2785.68 C G . 1/1 22 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View gordonsepilepsy normalized 2486 5 rs157577
dbSNP Clinvar
131563571 128.34 G C . 1/1 3 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.61542 0.61540 None None None None None None P4HA2|0.284703114|28.74%
View gordonsepilepsy normalized 2486 5 rs7707141
dbSNP Clinvar
132623391 136.8 T C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.79872 0.79870 None None None None None None FSTL4|0.091818612|52.85%
View gordonsepilepsy normalized 2486 5 rs322473
dbSNP Clinvar
145974850 58.65 A G . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.71126 0.71130 None None None None None None PPP2R2B|0.952734839|2.17%
View gordonsepilepsy normalized 2486 5 rs4565199
dbSNP Clinvar
149737221 2082.77 T G . 1/1 14 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99940 0.99940 None None None None None None TCOF1|0.029215491|69.76%
View gordonsepilepsy normalized 2486 5 rs3926389
dbSNP Clinvar
150677806 133.82 G A . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57987 0.57990 None None None None None None SLC36A3|0.018050533|75.25%
View gordonsepilepsy normalized 2486 5 rs2431072
dbSNP Clinvar
150677976 3111.94 T C . 1/1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.82568 0.82570 None None None None None None SLC36A3|0.018050533|75.25%
View gordonsepilepsy normalized 2486 5 rs6556037
dbSNP Clinvar
172097353 2425.79 C T . 0/1 52 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27256 0.27260 None None None None None None NEURL1B|0.153686814|42.45%
View gordonsepilepsy normalized 2486 5 rs2973727
dbSNP Clinvar
177658945 375.48 C T . 1/1 3 MOTIF[MA0058.1:Max] MODIFIER None 0.92252 0.92250 None None None None None None PHYKPL|0.050591269|62.48%
View gordonsepilepsy normalized 2486 6 rs2296358
dbSNP Clinvar
7390369 8862.75 T C . 1/1 68 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View gordonsepilepsy normalized 2486 6 rs200500
dbSNP Clinvar
27791865 142.67 G T . 1/1 6 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 6 rs2596429
dbSNP Clinvar
31334821 687.25 A T . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.90974 0.90970 None None None None None None None
View gordonsepilepsy normalized 2486 6 rs6457401
dbSNP Clinvar
31334852 108.89 G T . 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32668 0.32670 None None None None None None None
View gordonsepilepsy normalized 2486 6 rs113453333
dbSNP Clinvar
32522490 2048.17 G A . 0/1 45 MOTIF[MA0014.1:Pax5] MODIFIER None 0.28914 0.28910 None None None None None None None
View gordonsepilepsy normalized 2486 6 rs201361381
dbSNP Clinvar
32522492 4060.72 C T . 0/1 46 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 6 rs111715782
dbSNP Clinvar
32522494 10728.7 C T . 0/1 44 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 6 rs199502756
dbSNP Clinvar
32522501 3832.72 A G . 0/1 43 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 6 rs201175797
dbSNP Clinvar
32557621 486.3 T G . 0/1 11 MOTIF[MA0080.2:PU1] MODIFIER None 0.05511 0.05511 None None None None None None HLA-DRB1|0.032266025|68.49%
View gordonsepilepsy normalized 2486 6 rs111624231
dbSNP Clinvar
35109157 95.09 C A . 0/1 15 MOTIF[MA0093.1:USF1] MODIFIER None 0.13658 0.13660 None None None None None None TCP11|0.018183187|75.17%
View gordonsepilepsy normalized 2486 6 rs6928410
dbSNP Clinvar
106892991 51.65 A G . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.25020 0.25020 None None None None None None None
View gordonsepilepsy normalized 2486 7 rs73132431
dbSNP Clinvar
62476203 174.89 T C . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 7 rs73132433
dbSNP Clinvar
62476205 174.89 C T . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2486 6 rs2749664
dbSNP Clinvar
157802047 441.66 C G . 0/1 5 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84205 0.84210 None None None None None None None
View gordonsepilepsy normalized 2486 6 rs9457417
dbSNP Clinvar
159050540 77.42 G A . 1/1 3 MOTIF[MA0065.1:PPARG] MODIFIER None 0.10963 0.10960 None None None None None None TMEM181|0.035547858|67.29%
View gordonsepilepsy normalized 2486 6 rs9347683
dbSNP Clinvar
163149055 231.3 A C . 0/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.22384 0.22380 None None None None None None PACRG|0.635061961|10.62%
View gordonsepilepsy normalized 2486 6 rs3798319
dbSNP Clinvar
167595070 920.96 C T . 1/1 9 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None TCP10L2|0.00037508|99.11%
View gordonsepilepsy normalized 2486 6 rs199865018
dbSNP Clinvar
167786991 817.76 G A . 0/1 20 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None TCP10|0.000628006|97.7%
View gordonsepilepsy normalized 2486 7 rs4385369
dbSNP Clinvar
1852166 51.39 G A . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.37480 0.37480 None None None None None None None
View gordonsepilepsy normalized 2486 7 rs78994606
dbSNP Clinvar
4777106 317.94 C T . 0/1 21 MOTIF[MA0162.1:Egr1] MODIFIER None 0.03135 0.03135 None None None None None None FOXK1|0.056151598|60.88%
View gordonsepilepsy normalized 2486 7 rs17553434
dbSNP Clinvar
44084210 104.91 A G . 0/1 15 MOTIF[MA0062.2:Gabp] MODIFIER None 0.26597 0.26600 None None None None None None None
View gordonsepilepsy normalized 2486 7 rs1008384
dbSNP Clinvar
44178626 1879.92 A G . 0/1 72 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16494 0.16490 0.19968 None None None None None None MYL7|0.150786926|42.85%
View gordonsepilepsy normalized 2486 7 rs77036114
dbSNP Clinvar
56174351 2361.7 C G . 0/1 32 MOTIF[MA0062.1:Gabp] MODIFIER None 0.00220 0.13680 None None None None None None None
View gordonsepilepsy normalized 2486 7 rs1882655
dbSNP Clinvar
66147057 2356.68 T C . 1/1 20 MOTIF[MA0062.2:Gabp] MODIFIER None 0.86681 0.86680 None None None None None None KCTD7|0.214101234|35.12%
View gordonsepilepsy normalized 2486 7 rs116986855
dbSNP Clinvar
76554294 44.65 T G . 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32428 0.32430 None None None None None None UPK3B|0.023874856|72.26%
View gordonsepilepsy normalized 2486 7 rs4434553
dbSNP Clinvar
100240191 237.22 A G . 1/1 2 MOTIF[MA0154.1:EBF] MODIFIER None 0.30012 0.30010 None None None None None None TFR2|0.128216493|46.16%
View gordonsepilepsy normalized 2486 7 rs80040741
dbSNP Clinvar
100608929 4223.72 G T . 0/1 61 MOTIF[MA0079.2:SP1] MODIFIER None 0.00040 0.00040 None None None None None None MUC3A|0.001683398|91.94%
View gordonsepilepsy normalized 2486 7 rs11761361
dbSNP Clinvar
102107697 1788.81 G C . 1/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None LRWD1|0.105506437|50.14%
View gordonsepilepsy normalized 2486 7 rs11768828
dbSNP Clinvar
102810717 7564.68 A G . 1/1 49 MOTIF[MA0139.1:CTCF] MODIFIER None 0.75639 0.75640 None None None None None None None
View gordonsepilepsy normalized 2486 7 rs191032768
dbSNP Clinvar
127983963 125.11 G C . 0/1 15 MOTIF[MA0062.2:Gabp] MODIFIER None 0.00180 0.00180 None None None None None None None
View gordonsepilepsy normalized 2486 7 rs1045897
dbSNP Clinvar
129592510 2354.5 G T . 0/1 42 MOTIF[MA0162.1:Egr1] MODIFIER None 0.17532 0.17530 None None None None None None UBE2H|0.984259716|1.33%
View gordonsepilepsy normalized 2486 7 rs796196330
dbSNP Clinvar
142172309 59.76 G A . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None