| geneid | 50 |
|---|---|
| ensemblid | ENSG00000100412.17 |
| hgncid | 118 |
| symbol | ACO2 |
| name | aconitase 2 |
| refseq_nuc | NM_001098.3 |
| refseq_prot | NP_001089.1 |
| ensembl_nuc | ENST00000216254.9 |
| ensembl_prot | ENSP00000216254.4 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 41469117 |
| end | 41528974 |
| strand | + |
| ver | v1.2 |
| region | chr22:41469117-41528974 |
| region5000 | chr22:41464117-41533974 |
| regionname0 | ACO2_chr22_41469117_41528974 |
| regionname5000 | ACO2_chr22_41464117_41533974 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACO2 | 1/1 | a0001 | 780 | 331 | 89 | 58 | 138 | 12 | 32 | subcellular location copy fasta | chr22 | 41464117 | 41533974 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 41469182 | + | 1 | -0.8718 | -0.6296 | -0.5534 | 0.3183 | acceptor | a0001 | HG02886.hp2 HG02897.hp1 HG03041.hp2 |
NA19074.hp1 | ACO2 | chr22 | 41464117 | 41533974 |
| 41499726 | + | 2 | 0.9927 | 0.9911 | 0.9910 | 0.0018 | donor | a0001 | HG02257.hp2 HG03209.hp1 |
HG00140.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41499862 | + | 2 | -0.9962 | -0.9955 | -0.9951 | 0.0011 | acceptor | a0001 | HG02257.hp2 HG03209.hp1 |
NA18612.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41507791 | + | 3 | 0.9984 | 0.9982 | 0.9978 | 0.0006 | donor | a0001 | HG00140.hp2 HG01070.hp1 HG02683.hp2 HG02717.hp2 NA18992.hp1 others(1): Show |
NA18993.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41508049 | + | 3 | -0.9997 | -0.9996 | -0.9996 | 0.0001 | acceptor | a0001 | NA19007.hp2 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41511876 | + | 4 | 0.9989 | 0.9988 | 0.9983 | 0.0005 | donor | a0001 | HG02300.hp1 | HG01891.hp2 HG02886.hp2 HG02897.hp1 HG03041.hp2 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41511968 | + | 4 | -0.9941 | -0.9937 | -0.9909 | 0.0033 | acceptor | a0001 | HG02698.hp2 | HG01891.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41515377 | + | 5 | 0.9990 | 0.9989 | 0.9987 | 0.0002 | donor | a0001 | HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 others(49): Show |
HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(65): Show |
ACO2 | chr22 | 41464117 | 41533974 |
| 41515535 | + | 5 | -0.9977 | -0.9976 | -0.9968 | 0.0010 | acceptor | a0001 | NA18979.hp1 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41515767 | + | 6 | 0.9893 | 0.9889 | 0.9854 | 0.0040 | donor | a0001 | HG02615.hp1 HG02717.hp2 |
HG01099.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41515917 | + | 6 | -0.9693 | -0.9678 | -0.9624 | 0.0069 | acceptor | a0001 | HG02717.hp1 | HG01099.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41517527 | + | 7 | 0.9953 | 0.9936 | 0.9918 | 0.0036 | donor | a0001 | HG02300.hp2 NA18991.hp2 |
HG03486.hp1 | ACO2 | chr22 | 41464117 | 41533974 |
| 41517631 | + | 7 | -0.9981 | -0.9980 | -0.9978 | 0.0003 | acceptor | a0001 | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(74): Show |
HG02886.hp1 HG03486.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41518481 | + | 8 | 0.9900 | 0.9886 | 0.9673 | 0.0226 | donor | a0001 | HG02723.hp2 | HG04184.hp1 NA19074.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41518572 | + | 8 | -0.9913 | -0.9904 | -0.9797 | 0.0115 | acceptor | a0001 | HG02886.hp1 | HG04184.hp1 NA19074.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41520171 | + | 9 | 0.9806 | 0.9778 | 0.9707 | 0.0098 | donor | a0001 | HG03195.hp2 HG03225.hp2 HG03471.hp1 |
HG02559.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41520276 | + | 9 | -0.9950 | -0.9940 | -0.9930 | 0.0020 | acceptor | a0001 | HG03195.hp2 HG03225.hp2 HG03471.hp1 |
HG01109.hp1 HG02258.hp1 HG02970.hp1 HG03453.hp1 NA18522.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41522830 | + | 10 | 0.9564 | 0.9525 | 0.9239 | 0.0325 | donor | a0001 | HG01081.hp1 | HG01099.hp1 HG01261.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41522987 | + | 10 | -0.9822 | -0.9812 | -0.9780 | 0.0042 | acceptor | a0001 | HG02109.hp1 | NA18969.hp1 | ACO2 | chr22 | 41464117 | 41533974 |
| 41523205 | + | 11 | 0.9956 | 0.9954 | 0.9948 | 0.0008 | donor | a0001 | HG02109.hp1 | HG04228.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41523278 | + | 11 | -0.9947 | -0.9945 | -0.9931 | 0.0016 | acceptor | a0001 | HG01243.hp2 NA19030.hp2 |
HG04228.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41523830 | + | 12 | 0.9990 | 0.9989 | 0.9988 | 0.0002 | donor | a0001 | HG01884.hp2 HG02258.hp2 HG02818.hp2 |
HG04228.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41523941 | + | 12 | -0.9993 | -0.9992 | -0.9992 | 0.0001 | acceptor | a0001 | HG00738.hp1 HG01106.hp2 |
HG00639.hp2 HG01243.hp1 HG01496.hp2 HG01891.hp1 HG02572.hp2 others(14): Show |
ACO2 | chr22 | 41464117 | 41533974 |
| 41524846 | + | 13 | 0.9990 | 0.9989 | 0.9988 | 0.0001 | donor | a0001 | HG00738.hp1 HG01106.hp2 |
HG01884.hp1 | ACO2 | chr22 | 41464117 | 41533974 |
| 41524968 | + | 13 | -0.9994 | -0.9994 | -0.9992 | 0.0002 | acceptor | a0001 | HG02257.hp2 HG03209.hp1 |
NA20129.hp1 | ACO2 | chr22 | 41464117 | 41533974 |
| 41525193 | + | 14 | 0.9969 | 0.9961 | 0.9958 | 0.0011 | donor | a0001 | NA18955.hp2 NA19077.hp2 |
HG02451.hp2 HG02809.hp1 HG03579.hp1 NA18906.hp2 NA21309.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41525348 | + | 14 | -0.9968 | -0.9967 | -0.9959 | 0.0009 | acceptor | a0001 | HG02257.hp2 HG02280.hp2 HG02647.hp1 HG02723.hp2 HG03041.hp1 others(3): Show |
HG03098.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41526262 | + | 15 | 0.9989 | 0.9989 | 0.9988 | 0.0001 | donor | a0001 | NA20129.hp1 | HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp1 others(50): Show |
ACO2 | chr22 | 41464117 | 41533974 |
| 41526453 | + | 15 | -0.9987 | -0.9986 | -0.9985 | 0.0003 | acceptor | a0001 | HG01099.hp2 | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(48): Show |
ACO2 | chr22 | 41464117 | 41533974 |
| 41527288 | + | 16 | 0.9976 | 0.9968 | 0.9957 | 0.0019 | donor | a0001 | HG01099.hp2 | HG03579.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41527420 | + | 16 | -0.9979 | -0.9976 | -0.9972 | 0.0007 | acceptor | a0001 | HG02258.hp2 | HG03579.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41527901 | + | 17 | 0.9978 | 0.9977 | 0.9976 | 0.0002 | donor | a0001 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 |
HG03579.hp2 | ACO2 | chr22 | 41464117 | 41533974 |
| 41528022 | + | 17 | -0.9983 | -0.9982 | -0.9981 | 0.0002 | acceptor | a0001 | HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG03139.hp2 others(1): Show |
HG01884.hp1 HG02818.hp1 NA19082.hp1 |
ACO2 | chr22 | 41464117 | 41533974 |
| 41528479 | + | 18 | 0.9991 | 0.9990 | 0.9990 | 0.0002 | donor | a0001 | NA19082.hp1 | HG03041.hp1 HG03453.hp2 |
ACO2 | chr22 | 41464117 | 41533974 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 41507809:splice 41507809:variant goto | c.192A>Cp.Thr64Thr | 128256 | Benign | ACO2:50 | SO:0001819 synonymous_variant |
MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MedGen:CN169374|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 others(1): Show |
+ | 2 | 5 | 7 | 148 | a0001a0004 | a0001c0001a0001c0004a0001c0006a0001c0010a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0004t0001a0001c0006t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(143): Show | HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 others(149): Show |
LOW | chr22 | A | C | TogoVar |
| 41518589:splice 41518589:variant goto | c.1032+17C>T | 136263 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:CN169374|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 Orphanet:313850|MedGen:C3661900|MONDO:MONDO:0014571 MedGen:C4225384 others(1): Show |
+ | 3 | 9 | 11 | 170 | a0001a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(165): Show | HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 others(171): Show |
MODIFIER | chr22 | C | T | TogoVar |
| 41518856:splice 41518856:variant goto | c.1032+284T>G | 683113 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 3 | 9 | 11 | 183 | a0001a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(178): Show | HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 others(185): Show |
MODIFIER | chr22 | T | G | TogoVar |
| 41517473:splice 41517473:variant goto | c.836-54T>C | 1188889 | Benign | ACO2:50 | SO:0001627 intron_variant |
MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MedGen:C3661900|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 others(1): Show |
+ | 3 | 8 | 10 | 182 | a0001a0003a0004 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(177): Show | HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 others(184): Show |
MODIFIER | chr22 | T | C | TogoVar |
| 41507739:splice 41507739:variant goto | c.174-52G>T | 1188855 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 others(1): Show |
+ | 3 | 8 | 10 | 175 | a0001a0003a0004 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(170): Show | HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 others(177): Show |
MODIFIER | chr22 | G | T | TogoVar |
| 41527647:splice 41527647:variant goto | c.2086+227T>C | 677926 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 3 | 7 | 8 | 126 | a0001a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(121): Show | HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 others(125): Show |
MODIFIER | chr22 | T | C | TogoVar |
| 41522608:splice 41522608:variant goto | c.1139-222A>G | 672851 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 2 | 3 | 49 | a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0003a0004c0011t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0070others(44): Show | HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 others(47): Show |
MODIFIER | chr22 | A | G | TogoVar |
| 41517840:splice 41517840:variant goto | c.940+209A>G | 678096 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 3 | 3 | 58 | a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(53): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(56): Show |
MODIFIER | chr22 | A | G | TogoVar |
| 41519997:splice 41519997:variant goto | c.1033-174C>G | 678097 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 49 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(44): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(47): Show |
MODIFIER | chr22 | C | G | TogoVar |
| 41523326:splice 41523326:variant goto | c.1370+48A>G | 1188890 | Benign | ACO2:50 | SO:0001627 intron_variant |
MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MedGen:C3661900 |
+ | 1 | 3 | 4 | 55 | a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0006t0002a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(50): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(53): Show |
MODIFIER | chr22 | A | G | TogoVar |
| 41527640:splice 41527640:variant goto | c.2086+220G>A | 678098 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 3 | 3 | 53 | a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0004t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(48): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(51): Show |
MODIFIER | chr22 | G | A | TogoVar |
| 41522649:splice 41522649:variant goto | c.1139-179delT | 1271095 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 50 | a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(45): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(48): Show |
MODIFIER | chr22 | GT | G | TogoVar |
| 41525661:splice 41525661:variant goto | c.1761+313A>G | 683142 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 50 | a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(45): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(48): Show |
MODIFIER | chr22 | A | G | TogoVar |
| 41526182:splice 41526182:variant goto | c.1762-73_1762-70delGCCT | 1280168 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 50 | a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(45): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(48): Show |
MODIFIER | chr22 | GCTGC | G | TogoVar |
| 41499405:splice 41499405:variant goto | c.37-321G>A | 1273288 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 3 | 3 | 51 | a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0001a0002c0007t0001 | a0001c0001t0001g0051a0001c0003t0001g0001a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0018others(46): Show | HG00099.hp1 HG00408.hp1 HG00621.hp1 HG00642.hp1 HG01081.hp2 others(50): Show |
MODIFIER | chr22 | G | A | TogoVar |
| 41533171:splice 41533171:variant goto | c.*4558T>G | 1228924 | Benign | POLR3H:171568 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 2 | 4 | 5 | 86 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0003t0004a0002c0007t0001 | a0001c0001t0001g0070a0001c0001t0001g0227a0001c0001t0001g0232a0001c0002t0001g0045a0001c0002t0001g0069others(81): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(86): Show |
MODIFIER | chr22 | T | G | TogoVar |
| 41518771:splice 41518771:variant goto | c.1032+216dupA | 1229068 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 6 | 6 | 14 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0203a0001c0002t0001g0162a0001c0002t0001g0163a0001c0002t0001g0166others(9): Show | HG00408.hp2 HG01884.hp1 HG02145.hp1 HG02809.hp1 HG02818.hp1 others(9): Show |
MODIFIER | chr22 | T | TA | TogoVar |
| 41527276:splice 41527276:variant goto | c.1954-12C>T | 136265 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900|MedGen:CN169374 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | HG01099.hp2 | MODIFIER | chr22 | C | T | TogoVar |
| 41507468:splice 41507468:variant goto | c.174-323C>T | 1216884 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 10 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0275a0001c0001t0001g0276a0001c0001t0001g0280others(5): Show | HG02109.hp2 HG02145.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 others(5): Show |
MODIFIER | chr22 | C | T | TogoVar |
| 41523957:splice 41523957:variant goto | c.1482+16T>C | 1591182 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | NA18971.hp1 | MODIFIER | chr22 | T | C | TogoVar |
| 41518449:splice 41518449:variant goto | c.941-32C>A | 1187332 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240a0001c0001t0001g0264 | HG04184.hp1 NA19074.hp1 |
MODIFIER | chr22 | C | A | TogoVar |
| 41515617:splice 41515617:variant goto | c.684+82A>T | 1194114 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
MODIFIER | chr22 | A | T | TogoVar |
| 41517469:splice 41517469:variant goto | c.836-58G>C | 1209473 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
MODIFIER | chr22 | G | C | TogoVar |
| 41522549:splice 41522549:variant goto | c.1139-281C>T | 1198513 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
MODIFIER | chr22 | C | T | TogoVar |
| 41527825:splice 41527825:variant goto | c.2087-76G>T | 1223441 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
MODIFIER | chr22 | G | T | TogoVar |
| 41528401:splice 41528401:variant goto | c.2209-78C>G | 1205632 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
MODIFIER | chr22 | C | G | TogoVar |
| 41528774:splice 41528774:variant goto | c.*161G>T | 1191184 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 |
MODIFIER | chr22 | G | T | TogoVar |
| 41528616:splice 41528616:variant goto | c.*3G>A | 1249075 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 | NA19082.hp1 | MODIFIER | chr22 | G | A | TogoVar |
| 41469330:splice 41469330:variant goto | c.36+148G>A | 1252576 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013a0001c0002t0001g0014 | HG01106.hp1 HG02257.hp1 |
MODIFIER | chr22 | G | A | TogoVar |
| 41525087:splice 41525087:variant goto | c.1606-106G>A | 1252375 | Benign | ACO2:50 LOC130067543:130067543 |
SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 7 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027a0001c0002t0001g0028others(2): Show | HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG03041.hp1 others(2): Show |
MODIFIER | chr22 | G | A | TogoVar |
| 41528228:splice 41528228:variant goto | c.2208+206A>G | 1267566 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 7 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027a0001c0002t0001g0028others(2): Show | HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG03041.hp1 others(2): Show |
MODIFIER | chr22 | A | G | TogoVar |
| 41525173:splice 41525173:variant goto | c.1606-20A>G | 1107205 | Likely_benign | ACO2:50 LOC130067544:130067544 |
SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045a0001c0002t0001g0089 | NA18955.hp2 NA19077.hp2 |
MODIFIER | chr22 | A | G | TogoVar |
| 41518771:splice 41518771:variant goto | c.1032+216delA | 1180003 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 6 | a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0118a0001c0002t0001g0119a0001c0002t0001g0123a0001c0002t0001g0147a0001c0003t0001g0064others(1): Show | HG01169.hp1 HG02280.hp1 HG02965.hp2 HG03130.hp2 HG03486.hp2 others(1): Show |
MODIFIER | chr22 | TA | T | TogoVar |
| 41525061:splice 41525061:variant goto | c.1605+93G>A | 675591 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 5 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161a0001c0002t0001g0162a0001c0002t0001g0163a0001c0002t0001g0169a0001c0002t0001g0184 | HG02451.hp2 HG02809.hp1 HG03579.hp1 NA18906.hp2 NA21309.hp1 |
MODIFIER | chr22 | G | A | TogoVar |
| 41527256:splice 41527256:variant goto | c.1954-32G>C | 675927 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 2 | 3 | a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0162a0001c0002t0001g0163a0001c0003t0001g0137 | HG02809.hp1 HG03098.hp1 NA21309.hp1 |
MODIFIER | chr22 | G | C | TogoVar |
| 41527275:splice 41527275:variant goto | c.1954-13G>A | 136264 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900|MedGen:CN169374 | + | 1 | 1 | 1 | 5 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251a0001c0002t0001g0252a0001c0002t0001g0253a0001c0002t0001g0265a0001c0002t0001g0291 | HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 |
MODIFIER | chr22 | G | A | TogoVar |
| 41515521:splice 41515521:variant goto | c.670C>Tp.Leu224Leu | 128257 | Benign | ACO2:50 | SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 others(1): Show |
+ | 2 | 2 | 3 | 81 | a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0001c0003t0004a0002c0007t0001 | a0001c0003t0001g0001a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0012a0001c0003t0001g0018others(76): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(81): Show |
LOW | chr22 | C | T | TogoVar |
| 41517409:splice 41517409:variant goto | c.836-118C>T | 1188888 | Benign | ACO2:50 | SO:0001627 intron_variant |
MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MedGen:C3661900|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 others(1): Show |
+ | 2 | 2 | 3 | 81 | a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0001c0003t0004a0002c0007t0001 | a0001c0003t0001g0001a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0012a0001c0003t0001g0018others(76): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(81): Show |
MODIFIER | chr22 | C | T | TogoVar |
| 41518430:splice 41518430:variant goto | c.941-51A>C | 674096 | Benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 7 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0299a0001c0003t0001g0300a0001c0003t0001g0304a0001c0003t0001g0306others(2): Show | HG00140.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG02698.hp1 others(3): Show |
MODIFIER | chr22 | A | C | TogoVar |
| 41527117:splice 41527117:variant goto | c.1954-171C>T | 680077 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 3 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0300a0001c0003t0001g0306 | HG00140.hp1 HG01070.hp1 HG03490.hp2 NA20752.hp1 |
MODIFIER | chr22 | C | T | TogoVar |
| 41526639:splice 41526639:variant goto | c.1953+186T>C | 1183501 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 4 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054a0001c0003t0001g0071a0001c0003t0001g0086a0001c0003t0001g0297 | HG00642.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp2 |
MODIFIER | chr22 | T | C | TogoVar |
| 41523783:splice 41523783:variant goto | c.1371-47G>T | 673700 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 3 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135a0001c0003t0001g0136a0001c0003t0001g0138 | HG01884.hp2 HG02258.hp2 HG02818.hp2 |
MODIFIER | chr22 | G | T | TogoVar |
| 41511929:splice 41511929:variant goto | c.486C>Tp.Gly162Gly | 136262 | Benign | ACO2:50 | SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:CN169374 | + | 1 | 1 | 1 | 4 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0139a0001c0004t0001g0140a0001c0004t0001g0141a0001c0004t0001g0142 | HG01891.hp2 HG02886.hp2 HG02897.hp1 HG03041.hp2 |
LOW | chr22 | C | T | TogoVar |
| 41469029:splice 41469029:variant goto | c.-118G>C | 677692 | Likely_benign | ACO2:50 | . | MedGen:C3661900 | + | 1 | 1 | 1 | 3 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0139a0001c0004t0001g0140a0001c0004t0001g0142 | HG02886.hp2 HG02897.hp1 HG03041.hp2 |
MODIFIER | chr22 | G | C | TogoVar |
| 41524707:splice 41524707:variant goto | c.1483-139C>G | 1212888 | Likely_benign | ACO2:50 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0152 | HG01884.hp1 | MODIFIER | chr22 | C | G | TogoVar |
| 41527314:splice 41527314:variant goto | c.1980C>Tp.Ile660Ile | 136266 | Benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:CN169374 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0152a0001c0005t0001g0164 | HG01884.hp1 HG02818.hp1 |
LOW | chr22 | C | T | TogoVar |
| 41499773:splice 41499773:variant goto | c.84A>Gp.Gln28Gln | 257432 | Benign/Likely_benign | ACO2:50 | SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0154a0001c0006t0002g0157 | HG02257.hp2 HG03209.hp1 |
LOW | chr22 | A | G | TogoVar |
| 41528553:splice 41528553:variant goto | c.2283G>Ap.Thr761Thr | 1613047 | Likely_benign | ACO2:50 POLR3H:171568 |
SO:0001624 3_prime_UTR_variant,SO:0001819 synonymous_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0103 | HG00408.hp2 | LOW | chr22 | G | A | TogoVar |
| 41520176:splice 41520176:variant goto | c.1038G>Ap.Lys346Lys | 507259 | Likely_benign | ACO2:50 | SO:0001819 synonymous_variant |
MedGen:C3661900|.|MONDO:MONDO:0014571 MedGen:C4225384 OMIM:616289|MONDO:MONDO:0013802 MedGen:C3281192 OMIM:614559 others(1): Show |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0159 | HG02559.hp2 | LOW | chr22 | G | A | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:41471373
|
c.36+2191C>T | Inflammatory bowel disease1.0581502 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0009a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0009t0001a0002c0007t0001 | a0001c0001t0001g0051a0001c0001t0001g0070a0001c0001t0001g0127a0001c0002t0001g0002a0001c0002t0001g0003others(127): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 others(135): Show |
Association analyses identify 38 susceptibility lo others(87): Show |
12,882 European ancestry cases, 21,770 European an others(267): Show |
TEF, NHP2L1, PMM1, L3MBTL2, CHADL | ACO2 | rs727563-G | + | MODIFIER | chr22 | C | T |
|
chr22:41471373
|
c.36+2191C>T | Crohn's disease1.0965022 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0009a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0009t0001a0002c0007t0001 | a0001c0001t0001g0051a0001c0001t0001g0070a0001c0001t0001g0127a0001c0002t0001g0002a0001c0002t0001g0003others(127): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 others(135): Show |
Association analyses identify 38 susceptibility lo others(87): Show |
5,956 European ancestry cases, 14,927 European anc others(265): Show |
TEF, NHP2L1, PMM1, L3MBTL2, CHADL | ACO2 | rs727563-G | + | MODIFIER | chr22 | C | T |
|
chr22:41512401
|
c.525+433T>C | Respiratory diseases | a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0006t0002a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(50): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(53): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 459,000 European ancestry individual others(2): Show |
ACO2 | rs9611602-? | + | MODIFIER | chr22 | T | C | |
|
chr22:41468186
|
c.-961A>T | Spherical equivalent0.1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0296a0001c0003t0001g0297a0001c0003t0001g0298a0001c0003t0001g0299others(9): Show | HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 others(10): Show |
Association of Myopia and Intraocular Pressure Wit others(112): Show |
95,827 European ancestry individuals/ | NR | PHF5A, ACO2 | rs9611597-A | + | MODIFIER | chr22 | A | T |
|
chr22:41488950
|
c.37-10776A>G | Adult body size0.00885996 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0127a0001c0003t0001g0012a0001c0003t0001g0050a0001c0003t0001g0073a0001c0003t0001g0074others(15): Show | HG00140.hp1 HG00280.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 others(16): Show |
Use of genetic variation to separate the effects o others(80): Show |
453,169 European ancestry individuals/ | ACO2 | ACO2 | rs738140-A | + | MODIFIER | chr22 | A | G |
|
chr22:41468186
|
c.-961A>T |
Educational attainment (years of education) others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0296a0001c0003t0001g0297a0001c0003t0001g0298a0001c0003t0001g0299others(9): Show | HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 others(10): Show |
Gene discovery and polygenic prediction from a gen others(80): Show |
up to 1,131,881 European ancestry individuals/ | PHF5A, ACO2 | rs9611597-A | + | MODIFIER | chr22 | A | T | |
|
chr22:41468186
|
c.-961A>T | Chronotype1.0381082 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0296a0001c0003t0001g0297a0001c0003t0001g0298a0001c0003t0001g0299others(9): Show | HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 others(10): Show |
Genome-wide association analyses of chronotype in others(61): Show |
449,734 European ancestry individuals/248,098 Eur others(26): Show |
PHF5A | PHF5A, ACO2 | rs9611597-A | + | MODIFIER | chr22 | A | T |
|
chr22:41468212
|
c.-935A>C |
Age of onset of childhood onset asthma0. others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0009a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0009t0001a0002c0007t0001 | a0001c0001t0001g0051a0001c0001t0001g0070a0001c0001t0001g0127a0001c0002t0001g0002a0001c0002t0001g0003others(138): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(147): Show |
Multi-ancestry meta-analysis of asthma identifies others(77): Show |
20,964 European ancestry cases, 674,014 European a others(17): Show |
PHF5A, ACO2 | rs505533-? | + | MODIFIER | chr22 | A | C | |
|
chr22:41522649
|
c.1139-179delT | Asthma | a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0148others(45): Show | HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 others(48): Show |
Genome-wide analysis highlights contribution of im others(59): Show |
84,492 European ancestry cases, 2,149 African Amer others(190): Show |
ACO2 | ACO2 | rs201267172-G | + | MODIFIER | chr22 | GT | G |
|
chr22:41488950
|
c.37-10776A>G | Height0.0093 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0127a0001c0003t0001g0012a0001c0003t0001g0050a0001c0003t0001g0073a0001c0003t0001g0074others(15): Show | HG00140.hp1 HG00280.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 others(16): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ACO2 | rs738140-G | + | MODIFIER | chr22 | A | G | |
|
chr22:41499405
|
c.37-321G>A | Height0.0102 | a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0001a0002c0007t0001 | a0001c0001t0001g0051a0001c0003t0001g0001a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0018others(46): Show | HG00099.hp1 HG00408.hp1 HG00621.hp1 HG00642.hp1 HG01081.hp2 others(50): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ACO2 | rs2076196-A | + | MODIFIER | chr22 | G | A | |
|
chr22:41469735
|
c.36+553A>G | Age-related eyesight deterioration (confirmatory factor analysis Factor 27)others(35): Show | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0296a0001c0003t0001g0297a0001c0003t0001g0298a0001c0003t0001g0299others(9): Show | HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 others(10): Show |
Principled distillation of UK Biobank phenotype da others(51): Show |
80,058 European ancestry individuals/ | ACO2 | rs2008065-? | + | MODIFIER | chr22 | A | G | |
|
chr22:41485598
|
c.37-14128G>A | Schizophrenia1.12614 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0170a0001c0001t0001g0173a0001c0001t0001g0210a0001c0001t0001g0211 | HG00323.hp1 HG00733.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp2 others(1): Show |
Mapping genomic loci implicates genes and synaptic others(26): Show |
53,386 European ancestry cases, 77,258 European an others(258): Show |
ACO2 | rs143426938-G | + | MODIFIER | chr22 | G | A | |
|
chr22:41517409
|
c.836-118C>T | Height0.0172 | a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0001c0003t0004a0002c0007t0001 | a0001c0003t0001g0001a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0012a0001c0003t0001g0018others(76): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(81): Show |
A saturated map of common genetic variants associa others(22): Show |
455,180 Hispanic or Latin American individuals/ | ACO2 | rs9619974-T | + | MODIFIER | chr22 | C | T | |
|
chr22:41533171
|
c.*4558T>G |
Urea levels (UKB data field 30670)0.0137 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0003t0004a0002c0007t0001 | a0001c0001t0001g0070a0001c0001t0001g0227a0001c0001t0001g0232a0001c0002t0001g0045a0001c0002t0001g0069others(81): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 others(86): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | POLR3H | rs2076198-G | + | MODIFIER | chr22 | T | G |