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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

LTBP2, NDUFB9,
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)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)

Genes at Clinical Genomics Database

LTBP2,
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3

Genes at HGMD

Summary

Number of Variants: 114
Number of Genes: 2

Export to: CSV

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 combined sample_98.variant43 14 rs77172932
dbSNP Clinvar
74969268 592.22 C T PASS 0/1 105 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02556 0.02556 0.00 None None None None None None LTBP2|0.184719306|38.39%

NDUFB9

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 combined sample_98.variant43 8 rs10195
dbSNP Clinvar
125562029 1154.37 C T PASS 0/1 112 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10284 0.10280 0.09042 0.36 0.00 None None None None None None NDUFB9|0.09890784|51.37%
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 combined sample_98.variant43 1 rs4360494
dbSNP Clinvar
38455891 1052.56 G C PASS 0/1 113 MOTIF[MA0139.1:CTCF] MODIFIER None 0.37660 0.37660 None None None None None None SF3A3|0.722961805|7.89%
View combined sample_98.variant43 3 rs7640969
dbSNP Clinvar
45718327 1208.55 T G PASS 1/1 104 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00040 0.00040 None None None None None None LIMD1|0.021021846|73.66%
View combined sample_98.variant43 3 rs200927208
dbSNP Clinvar
119139233 1985.6 AG A PASS 0/1 50 MOTIF[MA0139.1:CTCF] LOW None 0.14018 0.14020 None None None None None None ARHGAP31|0.196163887|37.14%
View combined sample_98.variant43 3 rs367549179
dbSNP Clinvar
196756780 129.73 C T PASS 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00459 0.00459 None None None None None None None
View combined sample_98.variant43 4 rs2116326
dbSNP Clinvar
90228736 1601.26 A G PASS 0/1 57 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05252 0.05252 None None None None None None GPRIN3|0.003353372|88%
View combined sample_98.variant43 5 rs4705755
dbSNP Clinvar
112379434 402.07 T A PASS 1/1 32 MOTIF[MA0139.1:CTCF] MODIFIER None 0.49281 0.49280 None None None None None None MCC|0.469013944|17.21%
View combined sample_98.variant43 5 rs2431072
dbSNP Clinvar
150677976 758.29 T C PASS 0/1 23 MOTIF[MA0139.1:CTCF] MODIFIER None 0.82568 0.82570 None None None None None None SLC36A3|0.018050533|75.25%
View combined sample_98.variant43 5 rs748744
dbSNP Clinvar
176085207 866.1 T C PASS 0/1 61 MOTIF[MA0139.1:CTCF] MODIFIER None 0.72863 0.72860 None None None None None None TSPAN17|0.095031849|52.11%
View combined sample_98.variant43 5 rs71611460
dbSNP Clinvar
178157756 382.39 A G PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.22624 0.22620 None None None None None None None
View combined sample_98.variant43 6 rs34606334
dbSNP Clinvar
33037294 49.57 T C PASS 0/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43111 0.43110 None None None None None None HLA-DPA1|0.007131154|83.36%
View combined sample_98.variant43 6 rs34682523
dbSNP Clinvar
33037304 49.57 G T PASS 0/1 36 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43950 0.43950 None None None None None None HLA-DPA1|0.007131154|83.36%
View combined sample_98.variant43 7 rs35199312
dbSNP Clinvar
45119946 657.75 T G PASS 0/1 66 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21925 0.21920 None None None None None None None
View combined sample_98.variant43 7 rs11761361
dbSNP Clinvar
102107697 242.99 G C PASS 1/1 23 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None LRWD1|0.105506437|50.14%
View combined sample_98.variant43 7 rs3735173
dbSNP Clinvar
150020526 302.76 C T PASS 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32748 0.32750 None None None None None None ACTR3C|0.005900668|84.7%,LRRC61|0.022118125|73.11%
View combined sample_98.variant43 7 rs5888422,rs397781507
dbSNP Clinvar
150672162 1307.95 T TC PASS 1/1 32 MOTIF[MA0139.1:CTCF] LOW None 1.00000 1.00000 None None None None None None KCNH2|0.688011457|8.87%
View combined sample_98.variant43 8 rs1987433
dbSNP Clinvar
7916609 52.7 C A DRAGENHardSNP 1/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View combined sample_98.variant43 8 rs3802285
dbSNP Clinvar
62491943 3972.07 G A PASS 1/1 213 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81889 0.81890 None None None None None None ASPH|0.124407055|46.75%
View combined sample_98.variant43 10 rs34058224
dbSNP Clinvar
47667508 130.91 C A PASS 0/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23243 0.23240 None None None None None None ANTXRL|0.000107209|99.93%
View combined sample_98.variant43 11 rs575375
dbSNP Clinvar
64535357 2257.0 T C PASS 1/1 114 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View combined sample_98.variant43 12 rs73107993
dbSNP Clinvar
48195873 1439.29 C T PASS 0/1 85 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09125 0.09125 None None None None None None HDAC7|0.157662345|41.92%
View combined sample_98.variant43 12 rs3217162,rs34650913,rs796811851
dbSNP Clinvar
109888158 2483.18 GGCC G PASS 1/1 65 MOTIF[MA0139.1:CTCF] LOW None 0.47784 0.47780 None None None None None None MYO1H|0.08059629|55.04%,KCTD10|0.111795137|48.88%
View combined sample_98.variant43 12 rs1244063
dbSNP Clinvar
124832606 2054.74 A G PASS 0/1 97 MOTIF[MA0139.1:CTCF] MODIFIER None 0.76578 0.76580 None None None None None None NCOR2|0.460506037|17.66%
View combined sample_98.variant43 13 rs9553420
dbSNP Clinvar
25268417 656.46 G A PASS 0/1 27 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29872 0.29870 None None None None None None ATP12A|0.195110246|37.26%
View combined sample_98.variant43 13 rs67765306
dbSNP Clinvar
40229842 5381.25 A AG PASS 0/1 179 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View combined sample_98.variant43 14 rs3215788
dbSNP Clinvar
65453493 2510.73 TG T PASS 0/1 89 MOTIF[MA0139.1:CTCF] LOW None 0.00339 0.14540 None None None None None None CHURC1-FNTB|0.506332309|15.53%,FNTB|0.413954649|19.93%
View combined sample_98.variant43 14 rs61994063
dbSNP Clinvar
93153412 648.61 G A PASS 0/1 73 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19589 0.19590 None None None None None None RIN3|0.02491419|71.85%
View combined sample_98.variant43 14 rs10147348
dbSNP Clinvar
105363202 613.76 A G PASS 0/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57847 0.57850 None None None None None None None
View combined sample_98.variant43 15 rs55986634
dbSNP Clinvar
64275645 576.37 G A PASS 1/1 53 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16214 0.16210 None None None None None None DAPK2|0.301329146|27.56%
View combined sample_98.variant43 15 rs9920885
dbSNP Clinvar
98418953 215.39 A C PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81590 0.81590 None None None None None None None
View combined sample_98.variant43 16 rs9934889
dbSNP Clinvar
19422019 4871.49 A C PASS 1/1 132 MOTIF[MA0139.1:CTCF] MODIFIER None 0.85623 0.85620 None None None None None None TMC5|0.020155456|74.1%
View combined sample_98.variant43 17 rs2732614
dbSNP Clinvar
44364209 4755.7 C T PASS 0/1 622 MOTIF[MA0139.1:CTCF] MODIFIER None 0.07328 0.07328 None None None None None None ARL17B|0.005721812|84.94%
View combined sample_98.variant43 19 rs1631032
dbSNP Clinvar
5892770 1569.46 C T PASS 0/1 121 MOTIF[MA0139.1:CTCF] MODIFIER None 0.58586 0.58590 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View combined sample_98.variant43 19 rs4020520
dbSNP Clinvar
23869684 2817.33 G A PASS 1/1 181 MOTIF[MA0139.1:CTCF] MODIFIER None 0.97304 0.97300 None None None None None None ZNF675|0.001544841|92.55%
View combined sample_98.variant43 19 rs113837172
dbSNP Clinvar
53193869 336.7 G A PASS 0/1 44 MOTIF[MA0139.1:CTCF] MODIFIER None 0.08446 0.08446 None None None None None None None
View combined sample_98.variant43 22 rs766951533
dbSNP Clinvar
21822372 494.87 CA... C PASS 1/1 16 MOTIF[MA0139.1:CTCF] LOW None None None None None None None None
View combined sample_98.variant43 21 rs8130574
dbSNP Clinvar
45180422 1478.47 G A PASS 0/1 78 MOTIF[MA0139.1:CTCF] MODIFIER None 0.80132 0.80130 None None None None None None PDXK|0.079279748|55.34%
View combined sample_98.variant43 22 rs2072814
dbSNP Clinvar
32870769 752.12 C T PASS 0/1 66 MOTIF[MA0139.1:CTCF] MODIFIER None 0.53834 0.53830 None None None None None None FBXO7|0.186130315|38.24%
View combined sample_98.variant43 22 rs7410601
dbSNP Clinvar
50317187 460.37 C T PASS 0/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.31390 0.31390 None None None None None None CRELD2|0.006398743|84.19%
View combined sample_98.variant43 1 rs61769341
dbSNP Clinvar
664468 343.75 G T DRAGENHardSNP 0/1 134 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View combined sample_98.variant43 X rs62599865
dbSNP Clinvar
134155904 3685.11 G T PASS 0/1 196 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28027 0.28030 None None None None None None FAM127C|0.009218146|81.5%
View combined sample_98.variant43 1 rs2027222
dbSNP Clinvar
9084924 552.78 T C PASS 1/1 89 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View combined sample_98.variant43 1 rs774518639
dbSNP Clinvar
26232446 1827.29 A ACGGT PASS 0/1 98 MOTIF[MA0139.1:CTCF] LOW None None None None None None None STMN1|0.749943798|7.09%
View combined sample_98.variant43 1 rs857148
dbSNP Clinvar
57175158 4232.46 A C PASS 0/1 279 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48423 0.48420 None None None None None None PRKAA2|0.348711913|24.24%
View combined sample_98.variant43 1 rs2297606
dbSNP Clinvar
154321084 882.05 G T PASS 0/1 86 MOTIF[MA0139.1:CTCF] MODIFIER None 0.20268 0.20270 None None None None None None ATP8B2|0.157327107|41.99%
View combined sample_98.variant43 2 rs843705
dbSNP Clinvar
54481592 808.66 C G PASS 0/1 56 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50619 0.50620 None None None None None None ACYP2|0.067344086|58.08%,TSPYL6|0.001250679|94.15%
View combined sample_98.variant43 4 rs398377
dbSNP Clinvar
2010973 6130.17 T G PASS 0/1 146 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28095 0.28100 None None None None None None NELFA|0.049308103|62.86%
View combined sample_98.variant43 4 rs3796863
dbSNP Clinvar
15849986 144.81 G T PASS 0/1 9 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43510 0.43510 None None None None None None CD38|0.014380427|77.57%
View combined sample_98.variant43 4 rs71606834
dbSNP Clinvar
140217010 1676.95 G C PASS 0/1 213 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10583 0.10580 None None None None None None NDUFC1|0.017018884|75.84%
View combined sample_98.variant43 5 rs248245
dbSNP Clinvar
179265261 1992.44 G A PASS 0/1 103 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57728 0.57730 None None None None None None C5orf45|0.001770546|91.6%
View combined sample_98.variant43 7 rs11768828
dbSNP Clinvar
102810717 589.78 A G PASS 0/1 104 MOTIF[MA0139.1:CTCF] MODIFIER None 0.75639 0.75640 None None None None None None None
View combined sample_98.variant43 8 rs4841558
dbSNP Clinvar
11415597 2344.75 C T PASS 1/1 91 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View combined sample_98.variant43 8 rs1042701
dbSNP Clinvar
11422045 13274.0 G A PASS 1/1 392 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View combined sample_98.variant43 8 rs1736082
dbSNP Clinvar
11703420 248.05 C T PASS 0/1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10683 0.10680 None None None None None None CTSB|0.202646008|36.44%
View combined sample_98.variant43 8 rs11784716
dbSNP Clinvar
11872723 1136.88 A G PASS 1/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.99701 0.99700 None None None None None None None
View combined sample_98.variant43 8 rs56279307
dbSNP Clinvar
11872732 733.45 G C PASS 0/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00260 0.33510 None None None None None None None
View combined sample_98.variant43 8 rs55907235
dbSNP Clinvar
11872734 733.45 C T PASS 0/1 41 MOTIF[MA0139.1:CTCF] MODIFIER None 0.33566 0.33570 None None None None None None None
View combined sample_98.variant43 8 rs747534222
dbSNP Clinvar
12517038 187.28 T G PASS 0/1 52 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View combined sample_98.variant43 10 rs41277992
dbSNP Clinvar
72294100 642.6 C T PASS 0/1 36 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10004 0.10000 None None None None None None PALD1|0.038632473|66.24%
View combined sample_98.variant43 11 rs4078520
dbSNP Clinvar
723429 1154.86 C T PASS 0/1 113 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View combined sample_98.variant43 11 rs2286810
dbSNP Clinvar
22851409 3436.65 A G PASS 0/1 72 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38299 0.38300 None None None None None None SVIP|0.065416803|58.51%
View combined sample_98.variant43 12 rs10751704
dbSNP Clinvar
132335963 6563.24 T G PASS 1/1 202 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48802 0.48800 None None None None None None MMP17|0.027229516|70.78%
View combined sample_98.variant43 14 rs6109
dbSNP Clinvar
95058360 905.98 A G PASS 0/1 29 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View combined sample_98.variant43 14 rs11847538
dbSNP Clinvar
106877519 658.6 A G PASS 0/1 32 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27875 0.27880 None None None None None None None
View combined sample_98.variant43 14 rs73367258
dbSNP Clinvar
106877535 601.46 C G PASS 0/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05351 0.05351 None None None None None None None
View combined sample_98.variant43 15 rs7164266
dbSNP Clinvar
35262087 351.56 C T PASS 1/1 23 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62240 0.62240 None None None None None None None
View combined sample_98.variant43 17 rs7214378
dbSNP Clinvar
77909085 1862.75 C T PASS 1/1 186 MOTIF[MA0139.1:CTCF] MODIFIER None 0.31629 0.31630 None None None None None None TBC1D16|0.068326777|57.86%
View combined sample_98.variant43 19 rs7343178
dbSNP Clinvar
2424938 527.15 A G PASS 0/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38798 0.38800 None None None None None None TMPRSS9|0.008844857|81.81%
View combined sample_98.variant43 19 rs12975442
dbSNP Clinvar
7917919 243.69 C T PASS 0/1 48 MOTIF[MA0139.1:CTCF] MODIFIER None 0.42931 0.42930 None None None None None None EVI5L|0.086789363|53.81%
View combined sample_98.variant43 19 rs184021721
dbSNP Clinvar
37407368 1516.24 A G PASS 0/1 147 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00260 0.00260 None None None None None None ZNF568|0.003037748|88.58%
View combined sample_98.variant43 20 rs6086563
dbSNP Clinvar
8703145 2655.74 C G PASS 1/1 55 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66214 0.66210 None None None None None None PLCB1|0.832831133|5.05%
View combined sample_98.variant43 22 rs6269
dbSNP Clinvar
19949952 731.92 A G PASS 0/1 122 MOTIF[MA0139.1:CTCF] MODIFIER None 0.35683 0.35680 None None None None None None COMT|0.166055932|40.8%
View combined sample_98.variant43 1 rs79328769
dbSNP Clinvar
149379694 765.74 C T PASS 1/1 46 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19908 0.19910 None None None None None None None
View combined sample_98.variant43 1 rs12728349
dbSNP Clinvar
161024782 123.2 C T PASS 1/1 11 MOTIF[MA0139.1:CTCF] MODIFIER None 0.40296 0.40300 None None None None None None ARHGAP30|0.052332049|61.97%
View combined sample_98.variant43 2 rs571933246
dbSNP Clinvar
231577502 170.81 C T PASS 0/1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00160 0.00160 None None None None None None None
View combined sample_98.variant43 4 rs2269850
dbSNP Clinvar
7763761 2511.91 A G PASS 1/1 87 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66813 0.66810 None None None None None None AFAP1|0.028735408|70.06%
View combined sample_98.variant43 4 rs17470892
dbSNP Clinvar
48143201 354.5 T C PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19569 0.19570 None None None None None None TEC|0.720083632|7.97%
View combined sample_98.variant43 4 rs10639733,rs768598040
dbSNP Clinvar
120550125 4045.94 A AG... PASS 1/1 88 MOTIF[MA0139.1:CTCF] LOW None None None None None None None PDE5A|0.288780989|28.44%
View combined sample_98.variant43 5 rs4957430
dbSNP Clinvar
41843797 1147.62 C T PASS 0/1 81 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21605 0.21610 None None None None None None OXCT1|0.313202771|26.58%
View combined sample_98.variant43 6 rs2296358
dbSNP Clinvar
7390369 3033.19 T C PASS 1/1 159 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View combined sample_98.variant43 7 rs4072597
dbSNP Clinvar
772025 433.77 G A PASS 1/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43810 0.43810 None None None None None None DNAAF5|0.006014089|84.58%
View combined sample_98.variant43 8 rs5888910,rs397698661
dbSNP Clinvar
1729582 577.37 C CTGG PASS 0/1 35 MOTIF[MA0139.1:CTCF] LOW None 0.61901 0.61900 None None None None None None CLN8|0.015531921|76.78%
View combined sample_98.variant43 9 rs1322045
dbSNP Clinvar
35754500 1709.78 G A PASS 1/1 72 MOTIF[MA0139.1:CTCF] MODIFIER None 0.65336 0.65340 None None None None None None RGP1|0.260192873|30.72%,MSMP|0.218073882|34.6%
View combined sample_98.variant43 9 rs1572344
dbSNP Clinvar
133948375 1297.09 T C PASS 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81550 0.81550 None None None None None None LAMC3|0.028908459|69.93%
View combined sample_98.variant43 9 rs1056270096
dbSNP Clinvar
139958939 1062.78 G A PASS 0/1 100 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None SAPCD2|0.023069065|72.66%
View combined sample_98.variant43 10 rs2784774
dbSNP Clinvar
81921553 1386.46 T C PASS 1/1 27 MOTIF[MA0139.1:CTCF] MODIFIER None 0.94968 0.94970 None None None None None None ANXA11|0.080075284|55.15%
View combined sample_98.variant43 11 rs75768611
dbSNP Clinvar
59570235 1388.06 G A PASS 0/1 81 MOTIF[MA0139.1:CTCF] MODIFIER None 0.12440 0.12440 None None None None None None STX3|0.232901107|33.09%
View combined sample_98.variant43 11 rs11227495
dbSNP Clinvar
66263243 906.44 C T PASS 0/1 64 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21246 0.21250 0.19181 None None None None None None DPP3|0.287233243|28.56%
View combined sample_98.variant43 11 rs2298724
dbSNP Clinvar
120823721 435.94 A G PASS 0/1 65 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 0.25984 None None None None None None GRIK4|0.59773792|11.84%
View combined sample_98.variant43 12 rs876934
dbSNP Clinvar
122354848 638.65 C T PASS 0/1 79 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28494 0.28490 None None None None None None PSMD9|0.120198748|47.41%
View combined sample_98.variant43 13 rs9535292
dbSNP Clinvar
50244041 1875.59 T C PASS 0/1 60 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View combined sample_98.variant43 14 rs7146599
dbSNP Clinvar
24527672 190.86 G A PASS 1/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28335 0.28330 None None None None None None LRRC16B|0.163892643|41.04%
View combined sample_98.variant43 14 rs4982856
dbSNP Clinvar
24563212 5173.76 T C PASS 1/1 156 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View combined sample_98.variant43 14 rs1987970
dbSNP Clinvar
107198866 1030.32 T G PASS 1/1 37 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None None
View combined sample_98.variant43 15 rs2253603
dbSNP Clinvar
40565055 8380.75 G A PASS 0/1 270 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View combined sample_98.variant43 15 rs351242
dbSNP Clinvar
74472716 426.22 G A PASS 0/1 37 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81969 0.81970 None None None None None None STRA6|0.02555581|71.53%
View combined sample_98.variant43 15 rs11312224,rs398078309,rs397854153
dbSNP Clinvar
75130015 836.88 AG A PASS 0/1 66 MOTIF[MA0139.1:CTCF] LOW None None None None None None None ULK3|0.181646729|38.83%
View combined sample_98.variant43 17 rs2189336
dbSNP Clinvar
5326162 595.46 G A PASS 0/1 49 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View combined sample_98.variant43 17 rs15359
dbSNP Clinvar
41843979 4042.01 C G PASS 0/1 148 MOTIF[MA0139.1:CTCF] MODIFIER None 0.72844 0.72840 None None None None None None DUSP3|0.128877516|46.05%