Annotation Detail

Information
Associated Genes
AARS1 AP1G1 AGRP APRT ZFHX3 GAS8-AS1 CA5A CA7 CALB2 CBFA2T3 CBFB CDH1 CDH3 CDH5 CDH11 CDH13 CDH15 CDH16 COX4I1 CTRB1 CTRL CYBA DHODH NQO1 DYNC1LI2 DPEP1 E2F4 FANCA FOXF1 FOXL1 FOXC2 GALNS GAS8 GCSH GLG1 HAS3 HP HPR HSBP1 HSD11B2 HSD17B2 HSF4 IRF8 KARS1 LCAT MAF MC1R CHST6 MVD NFATC3 CHMP1A PLCG2 PSKH1 PSMB10 PSMD7 RPL13 RRAD ST3GAL2 SLC9A5 SLC12A4 SNTB2 SPG7 TAT TERF2 TK2 TRG-GCC3-1 ZNF19 ZNF23 GAN SLC7A5 CDK10 TRADD MBTPS1 CES2 NAE1 NOL3 TAF1C SLC7A6 USP10 ATP6V0D1 BCAR1 VPS9D1 KIAA0513 PIEZO1 DHX38 IST1 ATP2C2 CLEC3A CHST4 MPHOSPH6 NUTF2 EMC8 TUBB3 CFDP1 CTCF NFAT5 WWP2 PRDM7 DDX19B GABARAPL2 MON1B TCF25 PHLPP2 ZCCHC14 GSE1 ATMIN COTL1 MLYCD SF3B3 CES3 ADAT1 CHST5 EDC4 PLA2G15 COG4 PLEKHG4 FBXL9P CPNE7 VPS4A IL17C NOB1 TMEM208 FHOD1 ANKRD11 ZDHHC1 OSGIN1 PARD6A CKLF NIP7 CIAO2B GINS2 TPPP3 TRAPPC2L WWOX BCO1 TERF2IP PRMT7 NECAB2 KLHDC4 HYDIN DEF8 DUS2 CHTF8 TXNL4B BANP PDPR RFWD3 LRRC36 DDX19A FBXL8 SMPD3 ZNF821 ZDHHC7 VAC14 CMTR2 DDX28 TSNAXIP1 CENPN CMC2 THAP11 JPH3 PDP2 RANBP10 VAT1L MEAK7 WFDC1 PDF DPEP2 DPEP3 MTHFSD ACD DBNDD1 FA2H RIPOR1 TMEM231 TANGO6 WDR59 ELMO3 KLHL36 FBXO31 ESRP2 CENPT PHAF1 CYB5B CMIP GFOD2 CDT1 MAP1LC3B PMFBP1 DYNLRB2 HSDL1 CRISPLD2 ENKD1 SLC7A6OS COG8 SPIRE2 ZNF469 B3GNT9 UTP4 ZNRF1 CNTNAP4 MARVELD3 MTSS2 CENPBD1P ZNF276 KCNG4 SDR42E1 CMTM1 PKD1L2 RNF166 EXOSC6 C16orf46 DNAAF1 NRN1L CMTM3 SPATA2L SPATA33 ZC3H18 CDYL2 TMEM170A SLC38A8 ZFP90 CARMIL2 KCTD19 CMTM4 CMTM2 BEAN1 SLC22A31 IL34 TMED6 FLJ30679 LINC02135 ZFPM1 ADAD2 ZFP1 ADAMTS18 SNAI3-AS1 LINC00311 LDHD FCSK MLKL ZNF778 ACSF3 TERB1 CES4A EXOC3L1 LINC00304 LINC00922 HCCAT5 NUDT7 CLEC18C SNAI3 LOC339059 CIBAR2 ATXN1L PKD1L3 CLEC18A CTU2 C16orf86 PABPN1L LOC400541 LINC02139 FENDRR LOC400553 ZC3H18-AS1 LINC02138 C16orf74 MIR140 NPIPB15 CTRB2 LINC02181 MIR328 CLEC18B SNORD68 MATCAP1 LOC654780 SNORD71 SNORD111 LINC00917 DUXB SNORD111B VPS9D1-AS1 ZFPM1-AS1 LOC100129215 LOC100129617 LOC100129697 VAC14-AS1 SYCE1L DPEP2NB TAT-AS1 TRG-GCC2-4 TRK-TTT1-1 TRM-CAT2-1 TRG-GCC2-5 TRG-GCC5-1 TRM-CAT6-1 LOC100287036 HSALR1 MIR1538 MIR1910 SNORA70D MIR3182 MIR1972-2 LINC00920 LOC100505942 DDX19A-DT LOHAN2 LOC100506281 LINC01082 C16orf95 CKLF-CMTM1 MIR4720 MIR4722 MIR4719 MIR5093 MIR5189 ARLNC1 LINC01081 LINC02126 BEAN1-AS1 LOC101927793 LOC101927817 ATP6V0D1-DT LOC101927863 LINC01572 ZFHX3-AS1 PSMD7-DT LINC02125 LOC101928230 LINC01229 LINC01227 LOC101928392 LOC101928417 LOC101928446 LOC101928557 LINC02189 C16orf95-DT LOC101928682 LOC101928708 ZCCHC14-DT LINC02182 MIR6504 MIR6775 MIR7854 MIR8058 MIR6773 MIR6774 MAFTRR TLE7 WWOX-AS1 DYNLRB2-AS1 CDH13-AS2 LINC02188 LOC102724467 FOXC2-AS1 LINC01228 LOC105369213 LOC105371328 LINC02136 LOC105371335 CPHXL LOC105371347 LINC02131 HSD17B2-AS1 CDH13-AS1 ATP2C2-AS1 LINC02176 LOC105371401 LOC105371414 LINC02166 LOC105376772 LOC105943583 DYNC1LI2-DT CTCF-DT LOC107984862 LOC108251797 LOC108254672 LOC108281164 LOC109029536 FRA16B SNORD13H SNORA119 LOC110120569 LOC110120570 LOC110120571 LOC110120572 LOC110120573 LOC110120824 LOC110121410 LOC110121411 LOC110121436 LOC110121443 LOC110121450 LOC110121468 LOC111365156 LOC111365213 LOC111413011 LOC111413029 LOC111429607 LOC111556152 CPHXL2 LOC112469016 LOC112486201 LOC112486202 LOC112486203 LOC112486204 LOC112486205 LOC112486206 LOC112486207 LOC112486208 LOC112486209 LOC112486210 LOC112486211 LOC112486212 LOC112486213 LOC112486214 LOC112486215 LOC112486216 LOC112486217 LOC112486218 LOC112486219 LOC112486220 LOC112486221 LOC112486222 LOC112486223 LOC112486227 MIR11401 MIR12128 DERPC LOC113939956 LOC116276453 NQO1-DT MBTPS1-DT LOC121587549 LOC121587550 LOC121587551 LOC121587552 LOC121587553 LOC121587554 LOC121587555 LOC121587556 LOC121587557 LOC121587558 LOC121587559 LOC121587560 LOC121587561 LOC121587562 LOC121587563 LOC121587564 LOC121587565 LOC121587566 LOC121587567 LOC121847990 LOC121847991 LOC121847992 LOC121847993 LOC121847994 LOC121847995 LOC121847996 LOC121847997 LOC121847998 LOC121847999 LOC121848000 LOC121848001 CDH3-AS1 ZNF778-DT CEDORA LOC125177332 LOC125177333 LOC125177334 LOC125177336 LOC125177337 LOC125177338 LOC125177339 LOC125177340 LOC125177341 LOC125177342 LOC125177343 LOC125177344 LOC125177345 LOC125177346 LOC125177347 LOC125177348 LOC125177349 LOC125177350 LOC125177351 LOC125177352 LOC125177353 LOC125177354 LOC125177355 LOC125177356 LOC125177357 LOC125177358 LOC125177359 LOC125177360 LOC125177361 LOC125177362 LOC125177363 LOC125177365 LOC125177366 LOC125177367 LOC125177368 LOC125177380 LOC125177381 LOC125177382 LOC125177383 LOC125177384 LOC125177385 LOC125177386 LOC125177387 LOC125177388 LOC125177389 LOC125177390 LOC125177391 LOC125177392 LOC125177393 LOC125177394 LOC125177395 LOC125177396 LOC125177397 LOC126862369 LOC126862370 LOC126862371 LOC126862372 LOC126862373 LOC126862374 LOC126862375 LOC126862376 LOC126862377 LOC126862378 LOC126862379 LOC126862380 LOC126862381 LOC126862382 LOC126862383 LOC126862384 LOC126862385 LOC126862386 LOC126862387 LOC126862388 LOC126862389 LOC126862390 LOC126862391 LOC126862392 LOC126862393 LOC126862394 LOC126862395 LOC126862396 LOC126862397 LOC126862398 LOC126862399 LOC126862400 LOC126862401 LOC126862402 LOC126862403 LOC126862404 LOC126862405 LOC126862406 LOC126862407 LOC126862408 LOC126862409 LOC126862410 LOC126862411 LOC126862412 LOC126862413 LOC126862414 LOC126862415 LOC126862416 LOC126862417 LOC126862418 LOC126862419 LOC126862420 LOC126862421 LOC126862422 LOC126862423 LOC126862424 LOC126862425 LOC126862426 LOC126862427 LOC126862428 LOC126862429 LOC126862430 LOC126862431 LOC126862432 LOC126862433 LOC126862434 LOC126862435 LOC126862436 LOC126862437 LOC126862438 LOC126862439 LOC126862440 LOC126862441 LOC126862442 LOC126862443 LOC126862444 LOC126862445 LOC126862446 LOC126862447 LOC126862448 LOC126862449 LOC126862450 LOC126862451 LOC126862453 LOC128462377 LOC128772395 LOC128772396 LOC128772397 LOC128772398 LOC128772399 LOC128772400 LOC128772401 LOC128772402 LOC128772403 LOC128772404 LOC128772405 LOC128772406 LOC128772407 LOC128772408 LOC128772409 LOC128772410 LOC128772411 LOC128772412 LOC128772413 LOC128772414 LOC128772415 LOC128772416 LOC128772417 LOC128772418 LOC128772419 LOC128772420 LOC128772421 LOC128779116 LOC128822932 LOC128822933 LOC128849170 LOC128849171 LOC128849173 LOC129390800 LOC129390801 LOC129390802 LOC129390803 LOC129390804 LOC129390805 LOC129390806 LOC129390807 LOC129390808 LOC129390809 LOC129390810 LOC129390811 LOC129390812 LOC129390813 LOC129390814 LOC129390815 LOC129390816 LOC129390817 PCHILR LOC130059151 LOC130059152 LOC130059153 LOC130059154 LOC130059155 LOC130059156 LOC130059157 LOC130059158 LOC130059159 LOC130059160 LOC130059161 LOC130059162 LOC130059163 LOC130059164 LOC130059165 LOC130059166 LOC130059167 LOC130059168 LOC130059169 LOC130059170 LOC130059171 LOC130059172 LOC130059173 LOC130059174 LOC130059175 LOC130059176 LOC130059177 LOC130059178 LOC130059179 LOC130059180 LOC130059181 LOC130059182 LOC130059183 LOC130059184 LOC130059185 LOC130059186 LOC130059187 LOC130059188 LOC130059189 LOC130059190 LOC130059191 LOC130059192 LOC130059193 LOC130059194 LOC130059195 LOC130059196 LOC130059197 LOC130059198 LOC130059199 LOC130059200 LOC130059201 LOC130059202 LOC130059203 LOC130059204 LOC130059205 LOC130059206 LOC130059207 LOC130059208 LOC130059209 LOC130059210 LOC130059211 LOC130059212 LOC130059213 LOC130059214 LOC130059215 LOC130059216 LOC130059217 LOC130059218 LOC130059219 LOC130059220 LOC130059221 LOC130059222 LOC130059223 LOC130059224 LOC130059225 LOC130059226 LOC130059227 LOC130059228 LOC130059229 LOC130059230 LOC130059231 LOC130059232 LOC130059233 LOC130059234 LOC130059235 LOC130059236 LOC130059237 LOC130059238 LOC130059239 LOC130059240 LOC130059241 LOC130059242 LOC130059243 LOC130059244 LOC130059245 LOC130059246 LOC130059247 LOC130059248 LOC130059249 LOC130059250 LOC130059251 LOC130059252 LOC130059253 LOC130059254 LOC130059255 LOC130059256 LOC130059257 LOC130059258 LOC130059259 LOC130059260 LOC130059261 LOC130059262 LOC130059263 LOC130059264 LOC130059265 LOC130059266 LOC130059267 LOC130059268 LOC130059269 LOC130059270 LOC130059271 LOC130059272 LOC130059273 LOC130059274 LOC130059275 LOC130059276 LOC130059277 LOC130059278 LOC130059279 LOC130059280 LOC130059281 LOC130059282 LOC130059283 LOC130059284 LOC130059285 LOC130059286 LOC130059287 LOC130059288 LOC130059289 LOC130059290 LOC130059291 LOC130059292 LOC130059293 LOC130059294 LOC130059295 LOC130059296 LOC130059297 LOC130059298 LOC130059299 LOC130059300 LOC130059301 LOC130059302 LOC130059303 LOC130059304 LOC130059305 LOC130059306 LOC130059307 LOC130059308 LOC130059309 LOC130059310 LOC130059311 LOC130059312 LOC130059313 LOC130059314 LOC130059315 LOC130059316 LOC130059317 LOC130059318 LOC130059319 LOC130059320 LOC130059321 LOC130059322 LOC130059323 LOC130059324 LOC130059325 LOC130059326 LOC130059327 LOC130059328 LOC130059329 LOC130059330 LOC130059331 LOC130059332 LOC130059333 LOC130059334 LOC130059335 LOC130059336 LOC130059337 LOC130059338 LOC130059339 LOC130059340 LOC130059341 LOC130059342 LOC130059343 LOC130059344 LOC130059345 LOC130059346 LOC130059347 LOC130059348 LOC130059349 LOC130059350 LOC130059351 LOC130059352 LOC130059353 LOC130059354 LOC130059355 LOC130059356 LOC130059357 LOC130059358 LOC130059359 LOC130059360 LOC130059361 LOC130059362 LOC130059363 LOC130059364 LOC130059365 LOC130059366 LOC130059367 LOC130059368 LOC130059369 LOC130059370 LOC130059371 LOC130059372 LOC130059373 LOC130059374 LOC130059375 LOC130059376 LOC130059377 LOC130059378 LOC130059379 LOC130059380 LOC130059381 LOC130059382 LOC130059383 LOC130059384 LOC130059385 LOC130059386 LOC130059387 LOC130059388 LOC130059389 LOC130059390 LOC130059391 LOC130059392 LOC130059393 LOC130059394 LOC130059395 LOC130059396 LOC130059397 LOC130059398 LOC130059399 LOC130059400 LOC130059401 LOC130059402 LOC130059403 LOC130059404 LOC130059405 LOC130059406 LOC130059407 LOC130059408 LOC130059409 LOC130059410 LOC130059411 LOC130059412 LOC130059413 LOC130059414 LOC130059415 LOC130059416 LOC130059417 LOC130059418 LOC130059419 LOC130059420 LOC130059421 LOC130059422 LOC130059423 LOC130059424 LOC130059425 LOC130059426 LOC130059427 LOC130059428 LOC130059429 LOC130059430 LOC130059431 LOC130059432 LOC130059433 LOC130059434 LOC130059435 LOC130059436 LOC130059437 LOC130059438 LOC130059439 LOC130059440 LOC130059441 LOC130059442 LOC130059443 LOC130059444 LOC130059445 LOC130059446 LOC130059447 LOC130059448 LOC130059449 LOC130059450 LOC130059451 LOC130059452 LOC130059453 LOC130059454 LOC130059455 LOC130059456 LOC130059457 LOC130059458 LOC130059459 LOC130059460 LOC130059461 LOC130059462 LOC130059463 LOC130059464 LOC130059465 LOC130059466 LOC130059467 LOC130059468 LOC130059469 LOC130059470 LOC130059471 LOC130059472 LOC130059473 LOC130059474 LOC130059475 LOC130059476 LOC130059477 LOC130059478 LOC130059479 LOC130059480 LOC130059481 LOC130059482 LOC130059483 LOC130059484 LOC130059485 LOC130059486 LOC130059487 LOC130059488 LOC130059489 LOC130059490 LOC130059491 LOC130059492 LOC130059493 LOC130059494 LOC130059495 LOC130059496 LOC130059497 LOC130059498 LOC130059499 LOC130059500 LOC130059501 LOC130059502 LOC130059503 LOC130059504 LOC130059505 LOC130059506 LOC130059507 LOC130059508 LOC130059509 LOC130059510 LOC130059511 LOC130059512 LOC130059513 LOC130059514 LOC130059515 LOC130059516 LOC130059517 LOC130059518 LOC130059519 LOC130059520 LOC130059521 LOC130059522 LOC130059523 LOC130059524 LOC130059525 LOC130059526 LOC130059527 LOC130059528 LOC130059529 LOC130059530 LOC130059531 LOC130059532 LOC130059533 LOC130059534 LOC130059535 LOC130059536 LOC130059537 LOC130059538 LOC130059539 LOC130059540 LOC130059541 LOC130059542 LOC130059543 LOC130059544 LOC130059545 LOC130059546 LOC130059547 LOC130059548 LOC130059549 LOC130059550 LOC130059551 LOC130059552 LOC130059553 LOC130059554 LOC130059555 LOC130059556 LOC130059557 LOC130059558 LOC130059559 LOC130059560 LOC130059561 LOC130059562 LOC130059563 LOC130059564 LOC130059565 LOC130059566 LOC130059567 LOC130059568 LOC130059569 LOC130059570 LOC130059571 LOC130059572 LOC130059573 LOC130059574 LOC130059575 LOC130059576 LOC130059577 LOC130059578 LOC130059579 LOC130059580 LOC130059581 LOC130059582 LOC130059583 LOC130059584 LOC130059585 LOC130059586 LOC130059587 LOC130059588 LOC130059589 LOC130059590 LOC130059591 LOC130059592 LOC130059593 LOC130059594 LOC130059595 LOC130059596 LOC130059597 LOC130059598 LOC130059599 LOC130059600 LOC130059601 LOC130059602 LOC130059603 LOC130059604 LOC130059605 LOC130059606 LOC130059607 LOC130059608 LOC130059609 LOC130059610 LOC130059611 LOC130059612 LOC130059613 LOC130059614 LOC130059615 LOC130059616 LOC130059617 LOC130059618 LOC130059619 LOC130059620 LOC130059621 LOC130059622 LOC130059623 LOC130059624 LOC130059625 LOC130059626 LOC130059627 LOC130059628 LOC130059629 LOC130059630 LOC130059631 LOC130059632 LOC130059633 LOC130059634 LOC130059635 LOC130059636 LOC130059637 LOC130059638 LOC130059639 LOC130059640 LOC130059641 LOC130059642 LOC130059643 LOC130059644 LOC130059645 LOC130059646 LOC130059647 LOC130059648 LOC130059649 LOC130059650 LOC130059651 LOC130059652 LOC130059653 LOC130059654 LOC130059655 LOC130059656 LOC130059657 LOC130059658 LOC130059659 LOC130059660 LOC130059661 LOC130059662 LOC130059663 LOC130059664 LOC130059665 LOC130059666 LOC130059667 LOC130059668 LOC130059669 LOC130059670 LOC130059671 LOC130059672 LOC130059673 LOC130059674 LOC130059675 LOC130059676 LOC130059677 LOC130059678 LOC130059679 LOC130059680 LOC130059681 LOC130059682 LOC130059683 LOC130059684 LOC130059685 LOC130059686 LOC130059687 LOC130059688 LOC130059689 LOC130059690 LOC130059691 LOC130059692 LOC130059693 LOC130059694 LOC130059695 LOC130059696 LOC130059697 LOC130059698 LOC130059699 LOC130059700 LOC130059701 LOC130059702 LOC130059703 LOC130059704 LOC130059705 LOC130059706 LOC130059707 LOC130059708 LOC130059709 LOC130059710 LOC130059711 LOC130059712 LOC130059713 LOC130059714 LOC130059715 LOC130059716 LOC130059717 LOC130059718 LOC130059719 LOC130059720 LOC130059721 LOC130059722 LOC130059723 LOC130059724 LOC130059725 LOC130059726 LOC130059727 LOC130059728 LOC130059729 LOC130059730 LOC130059731 LOC130059732 LOC130059733 LOC130059734 LOC130059735 LOC130059736 LOC130059737 LOC130059738 LOC130059739 LOC130059740 LOC130059741 LOC130059742 LOC130059743 LOC130059744 LOC130059745 LOC130059746 LOC130059747 LOC130059748 LOC130059749 LOC130059750 LOC130059751 LOC130059752 LOC130059753 LOC130059754 LOC130059755 LOC130059756 LOC130059757 LOC130059758 LOC130059759 LOC130059760 LOC130059761 LOC130059762 LOC130059763 LOC130059764 LOC130059765 LOC130059766 LOC130059767 LOC130059768 LOC130059769 LOC130059770 LOC130059771 LOC130059772 LOC130059773 LOC130059774 LOC130059775 LOC130059776 LOC130059777 LOC130059778 LOC130059779 LOC130059780 LOC130059781 LOC130059782 LOC130059783 LOC130059784 LOC130059785 LOC130059786 LOC130059787 LOC130059788 LOC130059789 LOC130059790 LOC130059791 LOC130059792 LOC130059793 LOC130059794 LOC130059795 LOC130059796 LOC130059797 LOC130059798 LOC130059799 LOC130059800 LOC130059801 LOC130059802 LOC130059803 LOC130059804 LOC130059805 LOC130059806 LOC130059807 LOC130059808 LOC130059809 LOC130059810 LOC130059811 LOC130059812 LOC130059813 LOC130059814 LOC130059815 LOC130059816 LOC130059817 LOC130059818 LOC130059819 LOC130059820 LOC130059821 LOC130059822 LOC130059823 LOC130059824 LOC130059825 LOC130059826 LOC130059827 LOC130059828 LOC130059829 LOC130059830 LOC130059831 LOC130059832 LOC130059833 LOC130059834 LOC130059835 LOC130059836 LOC130059837 LOC130059838 LOC130059839 LOC130059840 LOC130059841 LOC130059842 LOC130059843 LOC130059844 LOC130059845 LOC130059846 LOC130059847 LOC130059848 LOC130059849 LOC130059850 LOC130059851 LOC130059852 LOC130059853 LOC130059854 LOC130059855 LOC130059856 LOC132090391 LOC132090392 LOC132090393 LOC132090394 LOC132090395 LOC132090396 LOC132090397 LOC132090398 LOC132090400 LOC132090401 LOC132090402 LOC132090403 LOC132090404 LOC132090405 LOC132090406 LOC132090407 LOC132090408 LOC132090409 LOC132090410 LOC132090411 LOC132090412 LOC132090413 LOC132090414 LOC132090415 LOC132090416 LOC132090417 LOC132090418 LOC132090419 LOC132090420 LOC132090421 LOC132090422 LOC132090423 LOC132090424 LOC132090425 LOC132090426 LOC132090427 LOC132090428 LOC132090429 LOC132090430 LOC132090431 LOC132090432 LOC132090433 LOC132090434 LOC132090435 LOC132090436 LOC132090438 LOC132090439 LOC132090440 LOC132090441 LOC132090442 LOC132090443 LOC132090444 LOC132090445 LOC132090446 LOC132090447 LOC132090448 LOC132090449 LOC132090450 LOC132090451 LOC132090452 LOC132090453 LOC132090887 LOC132090888 LOC132090889 LOC132090890 LOC132090891 LOC132211112
Associated Variants
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3
Source Database
ClinVar
Description
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 AND See cases
ClinVar Allele ID
164265
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-12-22
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000142578
Observed Origin Sample
not provided
Drugs