Annotation Detail

Information
Associated Genes
ACTB AQP1 SEPTIN7 CRHR2 DGKB ETV1 GARS1 GPER1 ICA1 IL6 MEOX2 NUDT1 NDUFA4 PMS2 PRKAR1B SP4 TWIST1 CREB5 RAPGEF5 SCRN1 KIAA0087 ARL4A AGR2 PPP1R17 KDELR2 ADAP1 AVL9 IQCE OSBPL3 MRM2 NXPH1 GET4 CCZ1 MIOS RNF216 CPVL TOMM7 FLJ20712 CHST12 RADIL RBAK HERPUD2 GGCT INTS15 MICALL2 PSMG3 TNRC18 FAM220A GLCCI1 GPR146 MALSU1 AMZ1 AGR3 VWDE PRPS1L1 POLR1F SP8 HOXA11-AS JAZF1 BRAT1 SDK1 FOXK1 MMD2 LOC221946 DAGLB CCZ1B THSD7A MTURN PRR15 ELFN1 AGMO GRID2IP MIR148A LOC442497 MIR339 LOC646762 MIR550A1 MIR550A2 MIR589 UMAD1 CRPPA TSL JAZF1-AS1 LINC02983 HOXA-AS3 FOXL3-OT1 HOTTIP GLCCI1-DT ICA1-AS1 CRPPA-AS1 CPVL-AS2 LINC01176 LINC03013 RBAK-RBAKDN HOXA10-HOXA9 MIR4648 MIR550A3 ELMO1-AS1 MACC1-AS1 AOAH-IT1 PRKAR1B-AS1 PRKAR1B-AS2 CARD11-AS1 LINC02587 SEPTIN7-DT HERPUD2-AS1 LINC02888 LINC03015 CHN2-AS1 C7orf78 LINC01162 ORS8 PRR15-DT LOC108281146 SNORD65C SNHG26 LOC110120589 LOC110120772 LOC110120773 LOC110120775 LOC110120778 LOC110120786 LOC110121006 LOC110121034 LOC110121180 LOC110121185 LOC111365168 LOC111365184 LOC111365192 LOC111465017 LOC114004405 AHR EVX1 GHRHR HNRNPA2B1 HOXA1 HOXA2 HOXA3 HOXA4 HOXA5 HOXA6 HOXA7 HOXA9 HOXA10 HOXA11 HOXA13 NPY PDE1C PDGFA ZNF12 AIMP2 MAFK MAD1L1 EIF3B TAX1BP1 NFE2L3 AP5Z1 NOD1 GPNMB IGF2BP3 NUP42 HIBADH LSM5 SOSTDC1 KBTBD2 BBS9 SNX8 SNX10 TRA2A NT5C3A TMEM106B FKBP14 CDCA7L STK31 ANKMY2 TBX20 NEUROD6 FBXL18 TTYH3 EEPD1 C7orf50 CARD11 SCIN CCDC126 TMEM184A FERD3L SLC29A4 RSPH10B ITPRID1 ZNRF2 UNCX COL28A1 ABCB5 FAM221A MACC1 NPSR1 NPSR1-AS1 LINC02981 PDGFA-DT MIR196B IL6-AS1 WIPF3 LINC03007 OCM SNORD93 RSPH10B2 LOC100128653 ZNF316 MIR1200 MIR1183 MIR1302-6 MIR548N ANKRD61 MIR3146 LINC03095 HOTAIRM1 LINC03014 INMT-MINDY4 HOXA10-AS RNF216-IT1 ZFAND2A-DT ELFN1-AS1 LINC03016 MIOS-DT LINC02889 LOC101927668 LOC101928618 LOC101929756 MIR6874 LOC105375113 LOC105375115 LOC105375120 LOC105375131 SDK1-AS1 LOC105375146 LOC105375148 LOC105375166 HDAC9-AS1 LOC105375181 TAX1BP1-AS1 LOC106783574 LOC107126281 LOC107126288 SNORA114 LOC109623491 LOC110120719 LOC110120728 LOC110120749 LOC110120758 LOC110120765 LOC110121058 LOC110121066 LOC110121099 LOC110121290 LOC110121291 LOC111413014 LOC111591502 LOC112267991 LOC113687202 LOC113687203 LOC113743972 LOC113743973 LOC113743975 LOC113748383 LOC113748384 LOC113748385 LOC113748386 LOC121144497 LOC121144498 LOC121144499 LOC121144500 LOC121144501 LOC121144502 LOC121144503 LOC121144504 LOC121175337 LOC121175338 LOC121175339 SMIM10L3 LOC123924885 LOC123924886 LOC123924887 LOC123924888 LOC123924889 LOC123924890 LOC123924891 LOC123924892 LOC123924893 LOC129997817 ADCYAP1R1 AOAH CHN2 GSDME GNA12 ITGB8 LFNG RAC1 RP9 RPA3 FSCN1 DNAH11 SKAP2 CYTH3 PHF14 HDAC9 ELMO1 TRIL INMT FKBP9 CBX3 SNX13 DPY19L1 SUN1 MATCAP2 WIPI2 INTS1 TSPAN13 EIF2AK1 BZW2 PALS2 CYCS ANLN ZNF853 CYP2W1 DNAAF5 ZDHHC4 KLHL7 PAPOLB C1GALT1 FAM20C NPVF MGC4859 USP42 MINDY4 HYCC1 PLEKHA8 ZFAND2A COX19 PSMG3-AS1 SPMIP4 BMPER TMEM196 STEAP1B LINC02860 HOXA-AS2 RBAKDN LNCRI LOC401312 GARS1-DT LINC00997 LOC401324 GRIFIN LOC100129603 LOC100131472 MIR550B2 MIR550B1 MIR3683 LRRC72 GIRGL STEAP1B-AS1 MIR4655 MIR4656 KLHL7-DT EVX1-AS LOC101927769 ITGB8-AS1 MIR6836 FKBP14-AS1 LOC105375218 LOC105375224 LOC105375233 LOC105375303 SNX10-AS1 LOC106799841 LOC106799845 LOC107197952 LOC108254689 SNORA80D SNORD165 LOC110120649 LOC110120650 LOC110120651 LOC110120652 LOC110120684 LOC110120685 LOC110120686 LOC110120687 LOC110120700 LOC110120961 LOC110120964 LOC110121115 LOC110121156 LOC110121158 LOC110121162 LOC113687173 LOC113687186 LOC116435278 LOC121740675 LOC121740676 LOC121740677 LOC123924894 LOC123924895 LOC123924896 LOC123924897 LOC123924898 LOC123924899 LOC123924900 LOC123924901 LOC123924902 LOC123924903 LOC123924904 LOC123924905 LOC123924906 LOC123924907 LOC123924908 LOC123924909 LOC123924910 LOC123924911 LOC123924912 LOC123924913 LOC123924914 LOC123924915 LOC123924916 LOC123924917 LOC123924918 LOC123924919 LOC123924920 LOC123924921 LOC123956119 LOC123956120 LOC123956121 LOC123956122 LOC123956123 LOC123956124 LOC123956125 LOC123956126 LOC123956127 LOC123956128 LOC123956129 LOC123956130 LOC126859955 LOC126859956 LOC126859957 LOC126859958 LOC126859959 LOC126859960 LOC126859961 LOC126859962 LOC126859963 LOC126859964 LOC126859965 LOC126859966 LOC126859967 LOC126859968 LOC126859969 LOC126859970 LOC126859971 LOC126859972 LOC126859973 LOC126859974 LOC126859975 LOC126859976 LOC126859977 LOC126859978 LOC126859979 LOC126859980 LOC126859981 LOC126859982 LOC126859983 LOC126859984 LOC126859985 LOC126859986 LOC126859987 LOC126859988 LOC126859989 LOC126859990 LOC126859991 LOC126859992 LOC126859993 LOC126859994 LOC126859995 LOC126859996 LOC126859997 LOC128772304 LOC128772305 LOC128772306 LOC128772307 LOC128772308 LOC128772309 LOC128772310 LOC128772311 LOC129389726 LOC129389727 LOC129389728 LOC129389729 LOC129389730 LOC129389731 LOC129389732 LOC129389733 LOC129389734 LOC129389735 LOC129389736 LOC129389737 LOC129389738 LOC129389739 LOC129389740 LOC129389741 LOC129389742 LOC129389743 LOC129997718 LOC129997719 LOC129997720 LOC129997721 LOC129997722 LOC129997723 LOC129997724 LOC129997725 LOC129997726 LOC129997727 LOC129997728 LOC129997729 LOC129997730 LOC129997731 LOC129997732 LOC129997733 LOC129997734 LOC129997735 LOC129997736 LOC129997737 LOC129997738 LOC129997739 LOC129997740 LOC129997741 LOC129997742 LOC129997743 LOC129997744 LOC129997745 LOC129997746 LOC129997747 LOC129997748 LOC129997749 LOC129997750 LOC129997751 LOC129997752 LOC129997753 LOC129997754 LOC129997755 LOC129997756 LOC129997757 LOC129997758 LOC129997759 LOC129997760 LOC129997761 LOC129997762 LOC129997763 LOC129997764 LOC129997869 LOC129997870 LOC129997871 LOC129997872 LOC129997873 LOC129997874 LOC129997875 LOC129997876 LOC129997877 LOC129997878 LOC129997879 LOC129997880 LOC129997881 LOC129997882 LOC129997883 LOC129997884 LOC129997885 LOC129997886 LOC129997887 LOC129997888 LOC129997889 LOC129997890 LOC129997891 LOC129997892 LOC129997893 LOC129997894 LOC129997895 LOC129997896 LOC129997897 LOC129997898 LOC129997899 LOC129997900 LOC129997901 LOC129997902 LOC129997903 LOC129997904 LOC129997905 LOC129997906 LOC129997907 LOC129997908 LOC129997909 LOC129997910 LOC129997911 LOC129997912 LOC129997913 LOC129997914 LOC129997915 LOC129997916 LOC129997917 LOC129997918 LOC129997919 LOC129997920 LOC129997973 LOC129997974 LOC129997975 LOC129997976 LOC129997977 LOC129997978 LOC129997979 LOC129997980 LOC129997981 LOC129997982 LOC129997983 LOC129997984 LOC129997985 LOC129997986 LOC129997987 LOC129997988 LOC129997989 LOC129997990 LOC129997991 LOC129997992 LOC129997993 LOC129997994 LOC129997995 LOC129997996 LOC129997997 LOC129997998 LOC129997999 LOC129998000 LOC129998001 LOC129998002 LOC129998003 LOC129998004 LOC129998005 LOC129998006 LOC129998007 LOC129998008 LOC129998009 LOC129998010 LOC129998011 LOC129998012 LOC129998013 LOC129998014 LOC129998015 LOC129998016 LOC129998017 LOC129998018 LOC129998019 LOC129998020 LOC129998021 LOC129998022 LOC129998023 LOC129998024 LOC129998077 LOC129998078 LOC129998079 LOC129998080 LOC129998081 LOC129998082 LOC129998083 LOC129998084 LOC129998085 LOC129998086 LOC129998087 LOC129998088 LOC129998089 LOC129998090 LOC129998091 LOC129998092 LOC129998093 LOC129998094 LOC129998095 LOC129998096 LOC129998097 LOC129998098 LOC129998099 LOC129998100 LOC129998101 LOC129998102 LOC129998103 LOC129998104 LOC129998105 LOC129998106 LOC129998107 LOC129998108 LOC129998109 LOC129998110 LOC129998111 LOC129998112 LOC129998113 LOC129998114 LOC129998115 LOC129998116 LOC129998117 LOC129998118 LOC129998119 LOC129998120 LOC129998121 LOC129998122 LOC129998123 LOC129998124 LOC129998125 LOC129998126 LOC129998127 LOC129998128 LOC129998181 LOC129998182 LOC129998183 LOC129998184 LOC129998185 LOC129998186 LOC129998187 LOC129998188 LOC129998189 LOC129998190 LOC129998191 LOC129998192 LOC129998193 LOC129998194 LOC129998195 LOC129998196 LOC129998197 LOC129998198 LOC129998199 LOC129998200 LOC129998201 LOC129998202 LOC129998203 LOC129998204 LOC129998205 LOC129998206 LOC129998207 LOC129998208 LOC129998209 LOC129998210 LOC129998211 LOC129998212 LOC113748387 LOC113748388 LOC113748389 LOC113748391 LOC113748392 LOC113748395 LOC113748396 LOC113748400 LOC113748401 LOC113748402 LOC114827829 FOXL3 LOC116183079 LOC116183082 LOC116183083 LOC116183084 LOC116183085 LOC116183086 LOC116183087 LOC116183088 LOC126859916 LOC126859917 LOC126859918 LOC126859919 LOC126859920 LOC126859921 LOC126859922 LOC126859923 LOC126859924 LOC126859925 LOC126859926 LOC126859927 LOC126859928 LOC126859929 LOC126859930 LOC126859931 LOC126859932 LOC126859933 LOC126859934 LOC126859935 LOC126859936 LOC126859937 LOC126859938 LOC126859939 LOC126859940 LOC126859941 LOC126859942 LOC126859943 LOC126859944 LOC126859945 LOC126859946 LOC126859947 LOC126859948 LOC126859949 LOC126859950 LOC126859951 LOC126859952 LOC126859953 LOC126859954 LINC03073 LOC129389744 LOC129389745 LOC129389746 LOC129389747 LOC129389748 LOC129389749 LOC129389750 LOC129389751 LOC129389752 LOC129389753 LOC129389754 LOC129389755 LOC129389756 LOC129389757 LOC129389758 LOC129389759 LOC129389760 LOC129389761 LOC129389762 LOC129389763 LOC129389764 LOC129389765 LOC129389766 LOC129389767 LOC129389768 LOC129389769 LOC129389770 LOC129389771 LOC129389772 LOC129389773 LOC129389774 LOC129389775 LOC129389776 LOC129389777 LOC129389778 LOC129389779 LOC129389780 LOC129389781 LOC129997765 LOC129997766 LOC129997767 LOC129997768 LOC129997769 LOC129997770 LOC129997771 LOC129997772 LOC129997773 LOC129997774 LOC129997775 LOC129997776 LOC129997777 LOC129997778 LOC129997779 LOC129997780 LOC129997781 LOC129997782 LOC129997783 LOC129997784 LOC129997785 LOC129997786 LOC129997787 LOC129997788 LOC129997789 LOC129997790 LOC129997791 LOC129997792 LOC129997793 LOC129997794 LOC129997795 LOC129997796 LOC129997797 LOC129997798 LOC129997799 LOC129997800 LOC129997801 LOC129997802 LOC129997803 LOC129997804 LOC129997805 LOC129997806 LOC129997807 LOC129997808 LOC129997809 LOC129997810 LOC129997811 LOC129997812 LOC129997813 LOC129997814 LOC129997815 LOC129997816 LOC129997921 LOC129997922 LOC129997923 LOC129997924 LOC129997925 LOC129997926 LOC129997927 LOC129997928 LOC129997929 LOC129997930 LOC129997931 LOC129997932 LOC129997933 LOC129997934 LOC129997935 LOC129997936 LOC129997937 LOC129997938 LOC129997939 LOC129997940 LOC129997941 LOC129997942 LOC129997943 LOC129997944 LOC129997945 LOC129997946 LOC129997947 LOC129997948 LOC129997949 LOC129997950 LOC129997951 LOC129997952 LOC129997953 LOC129997954 LOC129997955 LOC129997956 LOC129997957 LOC129997958 LOC129997959 LOC129997960 LOC129997961 LOC129997962 LOC129997963 LOC129997964 LOC129997965 LOC129997966 LOC129997967 LOC129997968 LOC129997969 LOC129997970 LOC129997971 LOC129997972 LOC129998025 LOC129998026 LOC129998027 LOC129998028 LOC129998029 LOC129998030 LOC129998031 LOC129998032 LOC129998033 LOC129998034 LOC129998035 LOC129998036 LOC129998037 LOC129998038 LOC129998039 LOC129998040 LOC129998041 LOC129998042 LOC129998043 LOC129998044 LOC129998045 LOC129998046 LOC129998047 LOC129998048 LOC129998049 LOC129998050 LOC129998051 LOC129998052 LOC129998053 LOC129998054 LOC129998055 LOC129998056 LOC129998057 LOC129998058 LOC129998059 LOC129998060 LOC129998061 LOC129998062 LOC129998063 LOC129998064 LOC129998065 LOC129998066 LOC129998067 LOC129998068 LOC129998069 LOC129998070 LOC129998071 LOC129998072 LOC129998073 LOC129998074 LOC129998075 LOC129998076 LOC129998129 LOC129998130 LOC129998131 LOC129998132 LOC129998133 LOC129998134 LOC129998135 LOC129998136 LOC129998137 LOC129998138 LOC129998139 LOC129998140 LOC129998141 LOC129998142 LOC129998143 LOC129998144 LOC129998145 LOC129998146 LOC129998147 LOC129998148 LOC129998149 LOC129998150 LOC129998151 LOC129998152 LOC129998153 LOC129998154 LOC129998155 LOC129998156 LOC129998157 LOC129998158 LOC129998159 LOC129998160 LOC129998161 LOC129998162 LOC129998163 LOC129998164 LOC129998165 LOC129998166 LOC129998167 LOC129998168 LOC129998169 LOC129998170 LOC129998171 LOC129998172 LOC129998173 LOC129998174 LOC129998175 LOC129998176 LOC129998177 LOC129998178 LOC129998179 LOC129998180 LOC129998233 LOC129998234 LOC129998235 LOC129998236 LOC129998237 LOC129998238 LOC129998239 LOC129998240 LOC129998241 LOC129998242 LOC129998243 LOC129998244 LOC129998245 LOC129998246 LOC129998247 LOC129998248 LOC129998249 LOC129998250 LOC129998251 LOC129998252 LOC129997818 LOC129997819 LOC129997820 LOC129997821 LOC129997822 LOC129997823 LOC129997824 LOC129997825 LOC129997826 LOC129997827 LOC129997828 LOC129997829 LOC129997830 LOC129997831 LOC129997832 LOC129997833 LOC129997834 LOC129997835 LOC129997836 LOC129997837 LOC129997838 LOC129997839 LOC129997840 LOC129997841 LOC129997842 LOC129997843 LOC129997844 LOC129997845 LOC129997846 LOC129997847 LOC129997848 LOC129997849 LOC129997850 LOC129997851 LOC129997852 LOC129997853 LOC129997854 LOC129997855 LOC129997856 LOC129997857 LOC129997858 LOC129997859 LOC129997860 LOC129997861 LOC129997862 LOC129997863 LOC129997864 LOC129997865 LOC129997866 LOC129997867 LOC129997868 LOC129998213 LOC129998214 LOC129998215 LOC129998216 LOC129998217 LOC129998218 LOC129998219 LOC129998220 LOC129998221 LOC129998222 LOC129998223 LOC129998224 LOC129998225 LOC129998226 LOC129998227 LOC129998228 LOC129998229 LOC129998230 LOC129998231 LOC129998232 LOC132089504 LOC132089513 LOC132089521 LOC132089522 LOC132089523 LOC132089524 LOC132090775 LOC132090776
Associated Variants
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3
Source Database
ClinVar
Description
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 AND See cases
ClinVar Allele ID
74273
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000053530
Observed Origin Sample
not provided
Drugs