Individual #00000001

Reference de Araujo TK et al (2016) de Araujo TK et al (2016)
Remarks Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations)
Panel size 358
Diseases Healthy/Control
Owner name Admin


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000003 DNA TaqMan - 253 Admin



Variants

253 entries on 3 pages. Showing entries 1 - 100.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     
1 Unknown g.23745865C>T dbSNP chr1_000001 0.924 Control 658 712 Admin - - - - - - -
1 Unknown g.23749386C>T dbSNP chr1_000002 0.269 Control 181 674 Admin - - - - - - -
1 Unknown g.23750961C>T dbSNP chr1_000003 0.119 Control 84 704 Admin - - - - - - -
1 Unknown g.23757004C>T dbSNP chr1_000004 0.274 Control 196 716 Admin - - - - - - -
1 Unknown g.23757159T>C dbSNP chr1_000005 0.230 Control 157 684 Admin - - - - - - -
1 Unknown g.75128190G>A dbSNP chr1_000008 0.374 Control 268 716 Admin - - - - - - -
1 Unknown g.75133215C>T dbSNP LHX8_000008 0.229 Control 162 708 Admin LHX8 ./. - NM_001001933.1:c.18+2483C>T - r.(=) p.(=) -
1 Unknown g.75135460C>T dbSNP LHX8_000005 0.207 Control 148 714 Admin LHX8 ./. - NM_001001933.1:c.19-1143C>T - r.(=) p.(=) -
1 Unknown g.75143364A>C dbSNP LHX8_000006 0.221 Control 157 710 Admin LHX8 ./. - NM_001001933.1:c.610+26A>C - r.(=) p.(=) -
1 Unknown g.75144766C>T dbSNP LHX8_000007 0.296 Control 211 712 Admin LHX8 ./. - NM_001001933.1:c.714+818C>T - r.(=) p.(=) -
1 Unknown g.75149341A>G dbSNP LHX8_000004 0.282 Control 201 714 Admin LHX8 ./. - NM_001001933.1:c.810+659A>G - r.(=) p.(=) -
1 Unknown g.75151588C>T dbSNP LHX8_000001 0.285 Control 204 716 Admin LHX8 ./. - NM_001001933.1:c.810+2906C>T - r.(=) p.(=) -
1 Unknown g.75152288C>A dbSNP LHX8_000002 0.116 Control 80 688 Admin LHX8 ./. - NM_001001933.1:c.810+3606C>A - r.(=) p.(=) -
1 Unknown g.75156931C>T dbSNP LHX8_000003 0.374 Control 268 716 Admin LHX8 ./. - NM_001001933.1:c.849C>T - r.(=) p.(=) -
1 Unknown g.209789449G>A dbSNP IRF6_000008 0.206 Control 147 714 Admin IRF6 ./. - NM_006147.3:c.1179+218C>T - r.(=) p.(=) -
1 Unknown g.209791530G>T dbSNP IRF6_000006 0.842 Control 601 714 Admin IRF6 ./. - NM_006147.3:c.668-643C>A - r.(=) p.(=) -
1 Unknown g.209795066C>T dbSNP IRF6_000007 0.159 Control 113 712 Admin IRF6 ./. - NM_006147.3:c.508+224G>A - r.(=) p.(=) -
1 Unknown g.209796557G>C dbSNP IRF6_000004 0.285 Control 204 716 Admin IRF6 ./. - NM_006147.3:c.175-5C>G - r.spl? p.? -
1 Unknown g.209798295G>C dbSNP IRF6_000005 0.358 Control 255 712 Admin IRF6 ./. - NM_006147.3:c.175-1743C>G - r.(=) p.(=) -
1 Unknown g.209802870G>A dbSNP IRF6_000001 0.355 Control 253 712 Admin IRF6 ./. - NM_006147.3:c.-75-827C>T - r.(=) p.(=) -
1 Unknown g.209803301T>C dbSNP IRF6_000002 0.356 Control 254 714 Admin IRF6 ./. - NM_006147.3:c.-75-1258A>G - r.(=) p.(=) -
1 Unknown g.209804619G>C dbSNP IRF6_000003 0.136 Control 97 712 Admin IRF6 ./. - NM_006147.3:c.-76+1328C>G - r.(=) p.(=) -
1 Unknown g.228004696G>A dbSNP chr1_000006 0.664 Control 469 706 Admin - - - - - - -
1 Unknown g.228005052T>A dbSNP chr1_000007 0.560 Control 391 698 Admin - - - - - - -
1 Unknown g.228020556A>G dbSNP WNT3A_000009 0.044 Control 30 684 Admin WNT3A ./. - NM_033131.3:c.72-2111A>G - r.(=) p.(=) -
1 Unknown g.228022114T>A dbSNP WNT3A_000006 0.504 Control 361 716 Admin WNT3A ./. - NM_033131.3:c.72-553T>A - r.(=) p.(=) -
1 Unknown g.228029296C>A dbSNP WNT3A_000001 0.307 Control 219 714 Admin WNT3A ./. - NM_033131.3:c.313+6388C>A - r.(=) p.(=) -
1 Unknown g.228032181C>A dbSNP WNT3A_000002 0.190 Control 135 712 Admin WNT3A ./. - NM_033131.3:c.313+9273C>A - r.(=) p.(=) -
1 Unknown g.228035335A>G dbSNP WNT3A_000003 0.737 Control 525 712 Admin WNT3A ./. - NM_033131.3:c.313+12427A>G - r.(=) p.(=) -
1 Unknown g.228037123A>G dbSNP WNT3A_000004 0.637 Control 451 708 Admin WNT3A ./. - NM_033131.3:c.314-13533A>G - r.(=) p.(=) -
1 Unknown g.228047307A>G dbSNP WNT3A_000005 0.153 Control 108 708 Admin WNT3A ./. - NM_033131.3:c.314-3349A>G - r.(=) p.(=) -
1 Unknown g.228057123G>T dbSNP WNT3A_000007 0.678 Control 477 704 Admin WNT3A ./. - NM_033131.3:c.580-1863G>T - r.(=) p.(=) -
1 Unknown g.228059650T>C dbSNP WNT3A_000008 0.344 Control 238 692 Admin WNT3A ./. - NM_033131.3:c.*185T>C - r.(=) p.(=) -
2 Unknown g.202205344C>T dbSNP chr2_000002 0.427 Control 298 698 Admin - - - - - - -
2 Unknown g.202214584T>C dbSNP SUMO1_000001 0.890 Control 634 712 Admin SUMO1 ./. - NM_003352.4:c.88-150A>G - r.(=) p.(=) -
2 Unknown g.202224545G>A dbSNP SUMO1_000002 0.521 Control 372 714 Admin SUMO1 ./. - NM_003352.4:c.13-4439C>T - r.(=) p.(=) -
2 Unknown g.202230180T>C dbSNP SUMO1_000003 0.100 Control 71 710 Admin SUMO1 ./. - NM_003352.4:c.12+8260A>G - r.(=) p.(=) -
2 Unknown g.202233836C>T dbSNP SUMO1_000004 0.360 Control 257 714 Admin SUMO1 ./. - NM_003352.4:c.12+4604G>A - r.(=) p.(=) -
2 Unknown g.202238678G>A dbSNP chr2_000001 0.423 Control 302 714 Admin - - - - - - -
3 Unknown g.55465379C>T dbSNP chr3_000001 0.148 Control 105 710 Admin - - - - - - -
3 Unknown g.55466380T>A dbSNP WNT5A_000001 0.462 Control 330 714 Admin WNT5A ./. - NM_003392.4:c.*3712A>T - r.(=) p.(=) -
3 Unknown g.55467147T>C dbSNP WNT5A_000002 0.471 Control 329 698 Admin WNT5A ./. - NM_003392.4:c.*2945A>G - r.(=) p.(=) -
3 Unknown g.55470702A>G dbSNP WNT5A_000003 0.534 Control 379 710 Admin WNT5A ./. - NM_003392.4:c.685-152T>C - r.(=) p.(=) -
3 Unknown g.55471362G>C dbSNP WNT5A_000004 0.373 Control 265 710 Admin WNT5A ./. - NM_003392.4:c.685-812C>G - r.(=) p.(=) -
3 Unknown g.55477647G>A dbSNP WNT5A_000005 0.469 Control 333 710 Admin WNT5A ./. - NM_003392.4:c.391+1667C>T - r.(=) p.(=) -
3 Unknown g.55482935G>C dbSNP WNT5A_000006 0.127 Control 91 716 Admin WNT5A ./. - NM_003392.4:c.7-2017C>G - r.(=) p.(=) -
3 Unknown g.55486750T>G dbSNP WNT5A_000007 0.732 Control 521 712 Admin WNT5A ./. - NM_003392.4:c.6+230A>C - r.(=) p.(=) -
4 Unknown g.4862018C>A dbSNP MSX1_000001 0.317 Control 226 712 Admin MSX1 ./. - NM_002448.3:c.470-683C>A - r.(=) p.(=) -
4 Unknown g.4863419A>G dbSNP MSX1_000002 0.408 Control 288 706 Admin MSX1 ./. - NM_002448.3:c.*276A>G - r.(=) p.(=) -
4 Unknown g.123394883A>G dbSNP chr4_000001 0.833 Control 578 694 Admin - - - - - - -
4 Unknown g.123399769A>G dbSNP SPRY1_000002 0.595 Control 415 698 Admin SPRY1 ./. - NM_001258038.1:c.-55-1768A>G - r.(=) p.(=) -
4 Unknown g.123402583T>C dbSNP SPRY1_000001 0.589 Control 411 698 Admin SPRY1 ./. - NM_001258038.1:c.*32T>C - r.(=) p.(=) -
5 Unknown g.138083805G>T dbSNP chr5_000001 0.121 Control 86 712 Admin - - - - - - -
5 Unknown g.138084036A>G dbSNP WNT8A_000001 0.190 Control 136 714 Admin WNT8A ./. - NM_058244.3:c.-54A>G - r.(=) p.(=) -
5 Unknown g.138084300C>T dbSNP WNT8A_000002 0.124 Control 88 712 Admin WNT8A ./. - NM_058244.3:c.102+17C>T - r.(=) p.(=) -
5 Unknown g.138090758G>A dbSNP WNT8A_000003 0.462 Control 330 714 Admin WNT8A ./. - NM_058244.3:c.741G>A - r.(=) p.(=) -
5 Unknown g.174726034A>G dbSNP MSX2_000003 0.558 Control 397 712 Admin MSX2 ./. - NM_002449.4:c.379+996A>G - r.(=) p.(=) -
5 Unknown g.174728779T>C dbSNP MSX2_000004 0.828 Control 591 714 Admin MSX2 ./. - NM_002449.4:c.380-380T>C - r.(=) p.(=) -
5 Unknown g.174729165T>A dbSNP MSX2_000002 0.810 Control 567 700 Admin MSX2 ./. - NM_002449.4:c.386T>A - r.(?) p.(Met129Lys) -
5 Unknown g.174730093A>G dbSNP MSX2_000001 0.808 Control 575 712 Admin MSX2 ./. - NM_002449.4:c.*510A>G - r.(=) p.(=) -
6 Unknown g.10394973C>T dbSNP chr6_000002 0.116 Control 82 704 Admin - - - - - - -
6 Unknown g.10395339A>G dbSNP chr6_000003 0.440 Control 314 714 Admin - - - - - - -
6 Unknown g.10398749A>T dbSNP TFAP2A_000001 0.263 Control 186 708 Admin TFAP2A ./. - NM_003220.2:c.1026-44T>A - r.(=) p.(=) -
6 Unknown g.10402950T>C dbSNP TFAP2A_000002 0.248 Control 177 714 Admin TFAP2A ./. - NM_003220.2:c.765-340A>G - r.(=) p.(=) -
6 Unknown g.10408524C>T dbSNP TFAP2A_000003 0.121 Control 86 710 Admin TFAP2A ./. - NM_003220.2:c.480+1377G>A - r.(=) p.(=) -
6 Unknown g.10411955T>C dbSNP TFAP2A_000004 0.390 Control 278 712 Admin TFAP2A ./. - NM_003220.2:c.46-1620A>G - r.(=) p.(=) -
6 Unknown g.10414773G>C dbSNP TFAP2A_000005 0.652 Control 464 712 Admin TFAP2A, TFAP2A-AS1 ./. - NM_003220.2:c.45+168C>G, NR_033910.1:n.143G>C - r.(=), r.(?) p.(=), - -
6 Unknown g.83513844G>A dbSNP PRSS35_000008 0.538 Control 382 710 Admin PRSS35 ./. - NM_153362.2:c.-21+1150G>A - r.(=) p.(=) -
6 Unknown g.83515044C>T dbSNP PRSS35_000009 0.169 Control 120 712 Admin PRSS35 ./. - NM_153362.2:c.-21+2350C>T - r.(=) p.(=) -
6 Unknown g.83515280G>A dbSNP PRSS35_000001 0.717 Control 512 714 Admin PRSS35 ./. - NM_153362.2:c.-21+2586G>A - r.(=) p.(=) -
6 Unknown g.83517927T>C dbSNP PRSS35_000002 0.527 Control 376 714 Admin PRSS35 ./. - NM_153362.2:c.-21+5233T>C - r.(=) p.(=) -
6 Unknown g.83518056A>G dbSNP PRSS35_000003 0.157 Control 112 712 Admin PRSS35 ./. - NM_153362.2:c.-21+5362A>G - r.(=) p.(=) -
6 Unknown g.83520556T>C dbSNP PRSS35_000004 0.217 Control 155 714 Admin PRSS35 ./. - NM_153362.2:c.-20-2866T>C - r.(=) p.(=) -
6 Unknown g.83520934A>G dbSNP PRSS35_000005 0.704 Control 501 712 Admin PRSS35 ./. - NM_153362.2:c.-20-2488A>G - r.(=) p.(=) -
6 Unknown g.83522978A>G dbSNP PRSS35_000006 0.658 Control 470 714 Admin PRSS35 ./. - NM_153362.2:c.-20-444A>G - r.(=) p.(=) -
6 Unknown g.83524112G>A dbSNP PRSS35_000007 0.893 Control 634 710 Admin PRSS35 ./. - NM_153362.2:c.671G>A - r.(?) p.(Arg224Gln) -
6 Unknown g.83526030G>T dbSNP chr6_000001 0.480 Control 340 708 Admin - - - - - - -
7 Unknown g.27100259G>A dbSNP chr7_000001 0.895 Control 637 712 Admin - - - - - - -
7 Unknown g.27102038C>A dbSNP HOXA2_000001 0.355 Control 250 704 Admin HOXA2 ./. - NM_006735.3:c.391+72G>T - r.(=) p.(=) -
7 Unknown g.155807723T>C dbSNP SHH_000001 0.831 Control 590 710 Admin SHH ./. - NM_000193.2:c.301-1166A>G - r.(=) p.(=) -
8 Unknown g.10724372A>C dbSNP SOX7_000007 0.676 Control 483 714 Admin SOX7 ./. - NM_031439.3:c.*1366T>G - r.(=) p.(=) -
8 Unknown g.10724531G>C dbSNP SOX7_000004 0.038 Control 27 714 Admin SOX7 ./. - NM_031439.3:c.*1207C>G - r.(=) p.(=) -
8 Unknown g.10724587C>G dbSNP chr8_000001 0.136 Control 96 708 Admin SOX7 ./. - NM_031439.3:c.*1151G>C - r.(=) p.(=) -
8 Unknown g.10725996A>G dbSNP SOX7_000005 0.429 Control 306 714 Admin SOX7 ./. - NM_031439.3:c.909T>C - r.(=) p.(=) -
8 Unknown g.10726702C>T dbSNP SOX7_000001 0.598 Control 428 716 Admin SOX7 ./. - NM_031439.3:c.239-36G>A - r.(=) p.(=) -
8 Unknown g.10727652T>C dbSNP SOX7_000002 0.177 Control 125 708 Admin SOX7 ./. - NM_031439.3:c.239-986A>G - r.(=) p.(=) -
8 Unknown g.10729498G>C dbSNP SOX7_000003 0.531 Control 378 712 Admin SOX7 ./. - NM_031439.3:c.238+698C>G - r.(=) p.(=) -
9 Unknown g.95441917C>T dbSNP chr9_000002 0.454 Control 323 712 Admin - - - - - - -
9 Unknown g.95442510G>A dbSNP chr9_000001 0.098 Control 70 714 Admin - - - - - - -
9 Unknown g.95445020C>G dbSNP PTCH1_000001 0.071 Control 51 714 Admin PTCH1 ./. - NM_000264.3:c.*1373G>C - r.(=) p.(=) -
9 Unknown g.95447312G>A dbSNP PTCH1_000002 0.355 Control 250 704 Admin PTCH1 ./. - NM_000264.3:c.3944C>T - r.(?) p.(Pro1315Leu) -
9 Unknown g.95476076G>A dbSNP PTCH1_000003 0.172 Control 123 714 Admin PTCH1 ./. - NM_000264.3:c.1686C>T - r.(=) p.(=) -
9 Unknown g.95476908G>C dbSNP PTCH1_000004 0.284 Control 203 714 Admin PTCH1 ./. - NM_000264.3:c.1504-51C>G - r.(=) p.(=) -
9 Unknown g.95480643A>G dbSNP PTCH1_000005 0.210 Control 150 714 Admin PTCH1 ./. - NM_000264.3:c.747-55T>C - r.(=) p.(=) -
9 Unknown g.95493953T>G dbSNP PTCH1_000006 0.085 Control 60 710 Admin PTCH1 ./. - NM_000264.3:c.395-8079A>C - r.(=) p.(=) -
9 Unknown g.95494027G>A dbSNP PTCH1_000007 0.083 Control 59 712 Admin PTCH1 ./. - NM_000264.3:c.395-8153C>T - r.(=) p.(=) -
9 Unknown g.97855301T>C dbSNP FOXE1_000002 0.631 Control 449 712 Admin FOXE1 ./. - NM_004473.3:c.*265T>C - r.(=) p.(=) -
9 Unknown g.97856378G>A dbSNP FOXE1_000001 1.000 Control 710 710 Admin FOXE1 ./. - NM_004473.3:c.*1342G>A - r.(=) p.(=) -
10 Unknown g.117131062T>C dbSNP VAX1_000001 0.842 Control 591 702 Admin VAX1 ./. - NM_001112704.1:c.*2946A>G - r.(=) p.(=) -
10 Unknown g.117131182G>A dbSNP VAX1_000002 0.666 Control 469 704 Admin VAX1 ./. - NM_001112704.1:c.*2826C>T - r.(=) p.(=) -
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