1 469 SO:0001483 2 470 SNV 3 471 SNP 4 469 SO:1000002 5 470 substitution 6 469 SO:0001019 7 470 copy_number_variation 8 471 CNV 9 469 SO:0000667 10 470 insertion 11 469 SO:0000159 12 470 deletion 13 469 SO:1000032 14 470 indel 15 469 SO:0000705 16 470 tandem_repeat 17 469 SO:0001059 18 470 sequence_alteration 19 469 SO:0001628 20 470 intergenic_variant 21 471 INTERGENIC 24 471 UPSTREAM 27 471 DOWNSTREAM 32 469 SO:0001575 33 470 splice_donor_variant 34 471 ESSENTIAL_SPLICE_SITE 36 470 splice_acceptor_variant 37 469 SO:0001630 38 470 splice_region_variant 39 471 SPLICE_SITE 40 469 SO:0001627 41 470 intron_variant 42 471 INTRONIC 43 469 SO:0001623 44 470 5_prime_UTR_variant 45 471 5PRIME_UTR 46 469 SO:0001624 47 470 3_prime_UTR_variant 48 471 3PRIME_UTR 54 471 SYNONYMOUS_CODING 55 469 SO:0001583 57 471 NON_SYNONYMOUS_CODING 62 469 SO:0001587 63 470 stop_gained 64 471 STOP_GAINED 65 469 SO:0001578 66 470 stop_lost 67 471 STOP_LOST 68 469 SO:0001567 69 470 stop_retained_variant 70 469 SO:0002012 72 469 SO:0001589 73 470 frameshift_variant 74 471 FRAMESHIFT_CODING 75 469 SO:0001626 76 470 incomplete_terminal_codon_variant 77 471 PARTIAL_CODON 78 469 SO:0001621 79 470 NMD_transcript_variant 80 471 NMD_TRANSCRIPT 81 469 SO:0001619 82 470 non_coding_transcript_variant 83 471 WITHIN_NON_CODING_GENE 84 469 SO:0001620 85 470 mature_miRNA_variant 86 471 WITHIN_MATURE_miRNA 87 469 SO:0001580 88 470 coding_sequence_variant 89 471 CODING_UNKNOWN 90 469 SO:0001566 91 470 regulatory_region_variant 92 471 REGULATORY_REGION 97 469 SO:0000234 98 470 mRNA 99 469 SO:0000673 100 470 transcript 101 469 SO:0000185 102 470 primary_transcript 103 469 SO:0000655 104 470 ncRNA 105 469 SO:0000276 106 470 miRNA 107 469 SO:0005836 108 470 regulatory_region 109 469 SO:0000409 110 470 binding_site 111 470 structural_variant 112 469 SO:0001537 113 471 SV 114 470 probe 115 469 SO:0000051 116 471 CNV_PROBE 118 473 transcript 119 474 20 120 474 21 122 474 18 124 474 19 125 472 splice-5 126 473 primary_transcript 127 474 1 128 472 splice-3 129 469 SO:0001574 130 474 8 131 472 intron 132 474 15 133 472 untranslated_5 134 473 mRNA 135 474 13 136 472 untranslated_3 137 474 14 138 474 5 139 472 cds-synon 140 474 10 141 472 missense 142 474 7 143 474 6 144 472 nonsense 145 474 3 146 474 4 147 472 frameshift 149 474 16 150 473 ncRNA 151 474 17 152 473 miRNA 153 474 12 154 474 11 155 473 regulatory_region 157 473 TF_binding_site 158 469 SO:0001782 159 470 TF_binding_site_variant 176 477 hapmap 177 477 ind_venter 178 477 ind_watson 179 477 fail_all 180 477 fail_nonref 181 477 fail_ambig 182 477 fail_gt_fq 183 477 fail_incons_map 184 477 fail_mult_map 185 477 fail_no_alleles 186 477 fail_no_gt 187 477 fail_no_map 188 477 fail_no_seq 189 477 fail_non_nt 190 477 fail_mult_alleles 191 477 ph_hgmd_pub 193 477 ph_nhgri 194 477 ph_omim 195 477 ph_variants 196 477 ph_uniprot 197 477 ph_cosmic 198 477 ph_ega 200 470 copy_number_gain 201 469 SO:0001742 202 471 gain 203 470 copy_number_loss 204 469 SO:0001743 205 471 loss 206 470 inversion 207 469 SO:1000036 208 470 complex_structural_alteration 209 469 SO:0001784 210 471 complex alteration 211 470 tandem_duplication 212 469 SO:1000173 213 471 tandem duplication 214 477 fail_dbsnp_suspect 215 478 unknown 216 478 untested 217 478 non-pathogenic 218 478 probable-non-pathogenic 219 478 probable-pathogenic 220 478 pathogenic 221 478 drug-response 222 478 histocompatibility 223 478 other 224 479 Not tested 225 479 Benign 226 479 Pathogenic 227 479 Uncertain Significance 228 479 likely benign 229 479 likely pathogenic 242 470 mobile_element_insertion 243 469 SO:0001837 244 471 mobile element insertion 245 477 PorcineSNP60 253 470 duplication 254 469 SO:1000035 255 470 sequence_feature 256 469 SO:0000110 257 477 hapmap_ceu 258 477 hapmap_hcb 259 477 hapmap_jpt 260 477 hapmap_yri 261 474 26 262 474 22 263 474 23 265 474 25 266 474 24 267 481 sift 268 481 polyphen_humvar 269 481 polyphen_humdiv 270 476 tolerated 271 476 deleterious 272 475 probably damaging 273 475 possibly damaging 274 475 benign 275 475 unknown 286 470 interchromosomal_breakpoint 287 469 SO:0001873 288 471 interchromosomal breakpoint 289 470 intrachromosomal_breakpoint 290 469 SO:0001874 291 471 intrachromosomal breakpoint 292 470 translocation 293 469 SO:0000199 294 474 38 295 469 SO:0001631 296 470 upstream_gene_variant 297 469 SO:0001632 298 470 downstream_gene_variant 299 469 SO:0001819 300 470 synonymous_variant 301 470 missense_variant 302 469 SO:0001821 303 470 inframe_insertion 304 469 SO:0001822 305 470 inframe_deletion 306 470 start_lost 307 469 SO:0001792 308 470 non_coding_transcript_exon_variant 309 474 36 310 474 30 311 469 SO:0001893 312 470 transcript_ablation 313 469 SO:0001889 314 470 transcript_amplification 315 469 SO:0001895 316 470 TFBS_ablation 317 469 SO:0001892 318 470 TFBS_amplification 319 474 28 320 469 SO:0001894 321 470 regulatory_region_ablation 322 474 31 323 469 SO:0001891 324 470 regulatory_region_amplification 325 474 33 326 469 SO:0001907 327 470 feature_elongation 328 469 SO:0001906 329 470 feature_truncation 330 474 37 331 471 duplication 332 477 Affy_500K 333 477 Affy_SNP6 334 477 Illumina_660Q 335 477 Illumina_1M-duo 337 477 Cardio-Metabo_Chip 338 477 HumanOmni1-Quad 339 477 Illumina_CytoSNP12v1 340 477 HumanHap650Y 341 477 HumanOmni2.5 342 477 Human610_Quad 343 477 HumanHap550 344 477 esp_6500 345 477 clin_assoc 346 473 sequence_feature 348 477 Chicken600K 350 477 BovineHD 351 477 BovineLD 352 477 BovineSNP50 353 477 MGP 354 477 HumanOmni5 355 477 phencode 356 477 OvineSNP50 357 477 OvineHDSNP 358 477 ExomeChip 359 477 ImmunoChip 360 477 all_chips 361 470 novel_sequence_insertion 362 469 SO:0001838 363 471 novel sequence insertion 364 479 not provided 365 479 association 366 479 risk factor 367 497 Multiple_observations 368 497 Frequency 369 497 HapMap 370 497 1000Genomes 371 497 Cited 372 497 ESP 373 477 HumanOmniExpress 374 477 ClinVar 375 470 genetic_marker 376 469 SO:0001645 377 480 uncertain significance 378 480 not provided 379 480 benign 380 480 likely benign 381 480 likely pathogenic 382 480 pathogenic 383 480 drug response 384 480 histocompatibility 385 480 other 386 480 confers sensitivity 387 480 risk factor 388 480 association 389 480 protective 390 477 HumanCoreExome 391 476 tolerated - low confidence 392 476 deleterious - low confidence 395 477 LSDB 396 477 dbPEX 397 477 HbVar 398 477 Infevers 399 477 KAT6BDB 400 477 LMDD 401 477 OIVD 402 477 PAHdb 404 477 1kg_3 405 477 1kg_3_afr 406 477 1kg_3_amr 407 477 1kg_3_eas 408 477 1kg_3_sas 409 477 1kg_3_eur 410 477 1kg_3_com 411 477 1kg_3_afr_com 412 477 1kg_3_amr_com 413 477 1kg_3_eas_com 414 477 1kg_3_sas_com 415 477 1kg_3_eur_com 416 469 SO:0001818 417 470 protein_altering_variant 418 497 Phenotype_or_Disease 419 477 lsdb_variants 420 477 exac 421 497 ExAC 422 470 interchromosomal_translocation 423 469 SO:0002060 424 470 intrachromosomal_translocation 425 469 SO:0002061 426 470 Alu_insertion 427 469 SO:0002063 428 477 PorcineLD 429 477 PorcineHD 430 477 Affy_PorcineHD 431 470 complex_substitution 432 469 SO:1000005 433 471 complex substitution 434 497 1000Bull_Genomes 435 497 WTSI_MGP 436 508 co-located allele 437 509 Data source 438 509 OLS exact 439 509 OLS partial 440 509 Zooma exact 441 509 Zooma partial 442 509 Manual 443 509 HPO 444 509 Orphanet 445 477 CTM 446 477 LVP 447 477 RexD 448 477 Bora_Bora 449 477 Perm-R 450 477 Imida-R 451 477 Propo-R 452 477 JPD_insecticide_resistance 453 477 PMID:24168143_dengue_functional_polymorphisms 454 477 PMID:24593293_insecticide_resistance 455 477 Australia_2011 456 477 Florida_2011 457 477 Puerto_Rico_2013 458 477 Uganda_2011 459 477 Mexico_2013 460 477 Texas_2011 461 477 Hawaii_2011 462 477 Thailand_2011 463 477 PMID_25721127_Aedes_SNP_chip_all_field_isolates 464 477 Senegal_Goudiry_2011 465 477 Tahiti_2013 466 477 Brazil_2013 467 477 Senegal_Sedhiou_2011 468 477 agsnp01 469 477 4ARR 470 477 KISUMU 471 477 Akron 472 477 L3-5 473 477 G3 474 477 TEP1_variations 475 477 agsnp01_66k 476 477 lstm_gg_0.8k 477 477 S.marcescens_infectivity_resistance 478 477 affy_250k_snps 479 477 perl_1m_snps 480 477 cao_snps 481 477 wtchg_snps 482 477 wtchg_insertions 483 477 wtchg_all_variations 484 477 wtchg_substitutions 485 477 salk_snps 486 477 nordborg_snps 487 477 salk_all_variations 488 477 nordborg_all_variations 489 477 salk_deletions 490 477 1001_snps 491 477 1001_deletions 492 477 1001_insertions 493 477 1001_substitutions 494 477 1001_all_variations_bc 495 477 nordborg_substitutions 496 477 salk_substitutions 497 477 wtchg_deletions 498 477 cao_all_variations 499 477 wgs_SNP 500 477 RNA-seq_SNP 501 477 MxB_popseq_SNP 502 477 OWB_popseq_SNP 503 477 iSelect_9k 504 477 Indiana 505 477 Maine 506 477 Massachusetts 507 477 New_Hampshire 508 477 North_Carolina 509 477 Wikel_ODU_colony 510 477 Wikel_UTMB_colony 511 477 Wisconsin 512 477 Virginia 513 477 Florida 514 477 RADSeq_tick_population_analysis 515 477 duitama 516 477 zhao 517 477 bgi 518 477 omap 519 477 mcnally 520 477 3k 521 477 myles_hq_snps 522 477 PMID:26206155_deltamethrin_resistance_study 523 477 PMID:26206155_high_significance_deltamethrin_resistance_variants 524 477 PMID:23708298_Anopheles_16_genomes 525 477 Burkina_Faso 526 477 Cameroon 527 477 Tanzania 528 477 Iran_A_form 529 477 Iran_D_form 530 477 DDT_resistant 531 477 DDT_susceptible 532 477 Haleta 533 477 Queensland 534 477 Madang 535 477 Tanna 536 477 Folonzo 537 477 Kiribina 538 477 arabiensis 539 477 coluzzii 540 477 gambiae 541 477 goundry 542 477 MR4_colony_variations_WTSI-Ag-GVP-0.1 543 477 Campo 544 477 Ballingho 545 477 Ipono 546 477 Luba 547 477 Kenya 548 477 Mpumalanga 549 477 India 550 477 Thailand 551 477 Zimbabwe 552 477 China_S 553 477 China_R 554 477 Indian_strain_colony 555 477 AS01-WBAN 556 477 AS01-CHB 557 477 AS01-BAN 558 477 AS01-IRN 559 477 AS01-KAZ 560 469 SO:0002096 561 470 short_tandem_repeat_variation 562 471 short tandem repeat variation 563 469 SO:0001786 564 470 loss_of_heterozygosity 565 471 loss of heterozygosity 566 477 Axiom820 567 477 Axiom35 568 477 EMS_Kronos 569 477 EMS_Cadenza 570 477 KASP 571 477 HapMap_WEC 572 477 HapMap_GBS 573 497 TOPMed 575 470 SVA_insertion 578 477 IHVs_AB 579 477 IHVs_AD 580 477 IHVs_BD 581 477 iSelect 582 470 mobile_element_deletion 583 469 SO:0002066 584 471 mobile element deletion 585 497 gnomAD 586 477 gnomAD 587 477 GoatSNP50 588 509 Rat Genome Database 589 509 Animal_QTLdb 590 509 ClinVar 591 509 G2P 592 509 NHGRI-EBI GWAS catalog 593 509 MGP 594 509 IMPC 595 477 Illumina_EquineSNP50 596 531 likely benign 597 531 likely deleterious 598 532 likely disease causing 599 532 likely benign 600 533 tolerated 601 534 high 602 534 medium 603 534 low 604 534 neutral 605 481 dbnsfp_cadd 606 481 dbnsfp_meta_lr 607 481 dbnsfp_mutation_assessor 608 481 dbnsfp_revel 609 481 cadd 610 539 link_to_primer 611 539 snp_type 612 539 total_contigs 613 539 primer_type 614 539 ems_genotype 615 542 EPMC 616 542 UCSC 617 542 dbSNP 618 542 GWAS 619 542 dbGaP 620 542 ClinVar 621 481 dbnsfp_meta_svm 622 477 VBP0000002 623 477 VBP0000003 624 477 VBP0000004 625 477 VBP0000007 626 477 VBP0000015 627 477 VBP0000119 628 477 VBP0000120 629 477 VBP0000121 630 477 VBP0000122 631 477 VBP0000124 632 477 VBP0000125 633 477 VBP0000163 634 477 VBP0000177 635 477 VBP0000187 636 477 VBP0000193 637 477 VBP0000201 638 477 VBP0000205 639 477 VBP0000212 640 477 VBP0000226 641 477 VBP0000227 642 477 VBP0000269 643 477 VBP0000295 644 477 VBP0000454 645 477 VBP0000504 646 477 VBP0000505 647 470 Alu_deletion 648 470 LINE1_deletion 654 470 SVA_deletion 656 470 LINE1_insertion 657 470 HERV_insertion 658 470 HERV_deletion 659 539 mutant_quality 660 539 residual_heterogeneity 661 477 TaBW280K 662 477 snp90K_Svevo 663 544 non_specified 664 544 tumour 665 544 trait 666 545 cerealsdb_external_links 667 477 SARS_CoV-2_2alt 668 480 affects 669 545 cerealsdb_qtl 670 477 ENA_SARS_CoV-2_var 671 477 EMS_Kronos_Promoters 672 477 Nottingham_WRC 673 477 COG-UK 674 477 Watkins-exome-capture 675 477 Exome_Capture_Diversity 676 545 seedstor_links 677 470 complex_chromosomal_rearrangement 678 542 G2P 679 477 barley50k 680 477 EMS_Kronos_Exome_Capture 681 477 Watkins_Collection