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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 35
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 snps raw 1 rs2887285
dbSNP Clinvar 		1242983 248.77 G A . 0/1 22 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.49381 0.49380 None None None None None None ACAP3|0.021694685|73.34%
View snps raw 1 rs11264331
dbSNP Clinvar 		155100265 158.77 A G . 0/1 17 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.66673 0.66670 None None None None None None EFNA1|0.216641674|34.78%
View snps raw 1 rs11585456
dbSNP Clinvar 		201458522 130.03 C G . 1/1 5 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.29872 0.29870 None None None None None None CSRP1|0.232838964|33.11%
View snps raw 1 rs73105692
dbSNP Clinvar 		217804208 1209.77 G T . 0/1 131 MOTIF[MA0003.1:Ap2alpha] LOW None 0.06949 0.06949 0.06179 None None None None None None GPATCH2|0.28849799|28.48%
View snps raw 1 rs3841811,rs10672134,rs58962570
dbSNP Clinvar 		246670626 458.73 A AG... . 0/1 21 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None None
View snps raw 2 rs62181670
dbSNP Clinvar 		172380146 365.77 C T . 0/1 24 MOTIF[MA0003.1:Ap2alpha] LOW None 0.18490 0.18490 None None None None None None CYBRD1|0.074895828|56.32%
View snps raw 5 rs34372448
dbSNP Clinvar 		1801427 2043.73 C CG . 1/1 49 MOTIF[MA0003.1:Ap2alpha] LOW None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View snps raw 5 rs11745573
dbSNP Clinvar 		1801432 1610.77 A G . 1/1 52 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View snps raw 5 rs62356073
dbSNP Clinvar 		36241922 99.77 G A . 0/1 8 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.25839 0.25840 None None None None None None NADK2|0.558013874|13.42%
View snps raw 5 rs151202
dbSNP Clinvar 		54529604 128.03 G A . 1/1 4 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.64557 0.64560 None None None None None None None
View snps raw 5 rs34647
dbSNP Clinvar 		72112430 633.77 C G . 1/1 19 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View snps raw 9 rs797041879
dbSNP Clinvar 		68726323 156.77 C A . 0/1 33 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None None
View snps raw 9 rs3013306
dbSNP Clinvar 		139440845 1204.77 G A . 1/1 40 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.35423 0.35420 None None None None None None None
View snps raw 10 rs117733067
dbSNP Clinvar 		3214691 499.77 G A . 0/1 34 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.05192 0.05192 None None None None None None PITRM1|0.017462354|75.61%
View snps raw 10 rs55634178
dbSNP Clinvar 		3214693 430.77 G A . 0/1 33 MOTIF[MA0003.1:Ap2alpha] LOW None 0.10843 0.10840 None None None None None None PITRM1|0.017462354|75.61%
View snps raw 15 rs3803354
dbSNP Clinvar 		40856989 5358.77 C T . 1/1 158 MOTIF[MA0003.1:Ap2alpha] LOW None 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
View snps raw 15 rs66822811,rs3834548
dbSNP Clinvar 		48623248 5248.73 TC... T . 1/1 30 MOTIF[MA0003.1:Ap2alpha] LOW None 0.53954 0.53950 None None None None None None DUT|0.607180992|11.55%
View snps raw 17 rs57311484,rs754079160,rs796727796
dbSNP Clinvar 		33307700 1938.73 GC G . 1/1 49 MOTIF[MA0003.1:Ap2alpha] LOW None 1.00000 1.00000 None None None None None None CCT6B|0.170692374|40.2%,LIG3|0.912616535|3.17%
View snps raw 20 rs6122141
dbSNP Clinvar 		61273717 773.77 G C . 0/1 47 MOTIF[MA0003.1:Ap2alpha] LOW None 0.51558 0.51560 None None None None None None None
View snps raw 22 rs71845980
dbSNP Clinvar 		32340837 185.0 CG C . 0/1 8 MOTIF[MA0003.1:Ap2alpha] LOW None 0.47584 0.47580 0.40809 None None None None None None C22orf24|0.001025322|95.27%,YWHAH|0.465802488|17.36%
View snps raw 8 rs379266
dbSNP Clinvar 		26436109 399.77 C T . 0/1 25 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.76957 0.76960 None None None None None None DPYSL2|0.481859756|16.66%
View snps raw 10 rs7100870
dbSNP Clinvar 		96122826 269.77 C T . 0/1 25 MOTIF[MA0003.1:Ap2alpha] LOW None 0.08247 0.08247 None None None None None None None
View snps raw 17 rs150854949,rs531119562
dbSNP Clinvar 		48277059 12084.73 AG... A . 1/1 84 MOTIF[MA0003.1:Ap2alpha] LOW None 0.51438 0.51440 None None None None None None COL1A1|0.749779298|7.09%
View snps raw 17 rs28365944
dbSNP Clinvar 		80416377 377.77 C G . 1/1 12 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.58826 0.58830 None None None None None None NARF|0.028729266|70.07%
View snps raw 18 rs8087496
dbSNP Clinvar 		12308504 1476.77 G A . 1/1 40 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.97484 0.97480 None None None None None None TUBB6|0.061114418|59.56%
View snps raw 6 rs11461877,rs869143962,rs397715970
dbSNP Clinvar 		36853786 1914.73 A AG . 1/1 56 MOTIF[MA0003.1:Ap2alpha] LOW None 1.00000 1.00000 0.00494 None None None None None None C6orf89|0.124247885|46.78%
View snps raw 8 rs8192339
dbSNP Clinvar 		22019071 1091.77 G A . 1/1 31 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.02596 0.02596 None None None None None None SFTPC|0.239824036|32.46%
View snps raw 9 rs882812
dbSNP Clinvar 		32384825 519.77 G A . 0/1 48 MOTIF[MA0003.1:Ap2alpha] LOW None 0.14117 0.14120 None None None None None None ACO1|0.412115925|20.03%
View snps raw 10 rs2274246
dbSNP Clinvar 		100175060 626.77 C T . 0/1 40 MOTIF[MA0003.1:Ap2alpha] LOW None 0.43830 0.43830 None None None None None None None
View snps raw 13 rs6650325
dbSNP Clinvar 		95953289 365.77 C A . 0/1 23 MOTIF[MA0003.1:Ap2alpha] LOW None 0.50419 0.50420 None None None None None None ABCC4|0.142494523|44.07%
View snps raw 13 rs9524896
dbSNP Clinvar 		95953292 359.77 G A . 0/1 23 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.50020 0.50020 None None None None None None ABCC4|0.142494523|44.07%
View snps raw 13 rs9517155
dbSNP Clinvar 		98629334 873.77 G C . 1/1 28 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.63858 0.63860 None None None None None None IPO5|0.498949955|15.88%
View snps raw 16 rs3743609
dbSNP Clinvar 		75467021 247.78 G C . 1/1 8 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.45927 0.45930 None None None None None None CFDP1|0.522465151|14.87%
View snps raw 17 rs8076153
dbSNP Clinvar 		37026236 227.77 C T . 0/1 17 MOTIF[MA0003.1:Ap2alpha] LOW None 0.17552 0.17550 None None None None None None LASP1|0.242487273|32.25%
View snps raw 21 rs1800526
dbSNP Clinvar 		45714256 323.77 G C . 0/1 18 MOTIF[MA0003.1:Ap2alpha] LOW None 0.21386 0.21390 0.14723 None None None None None None AIRE|0.006628229|83.92%
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