| geneid | 22848 |
|---|---|
| ensemblid | ENSG00000115977.21 |
| hgncid | 19679 |
| symbol | AAK1 |
| name | AP2 associated kinase 1 |
| refseq_nuc | NM_014911.5 |
| refseq_prot | NP_055726.4 |
| ensembl_nuc | ENST00000409085.9 |
| ensembl_prot | ENSP00000386456.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 69457997 |
| end | 69643739 |
| strand | - |
| ver | v1.2 |
| region | chr2:69457997-69643739 |
| region5000 | chr2:69452997-69648739 |
| regionname0 | AAK1_chr2_69457997_69643739 |
| regionname5000 | AAK1_chr2_69452997_69648739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69514722
|
T | G | 0.9966 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1525A>C | p.Lys509Gln | 1924/21157 | 1525/2886 | 509/961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69482787
|
A | G | 0.1175 | synonymous_variant | LOW | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0008others(5): Show | a0001c0004t0002a0001c0004t0010a0001c0004t0014others(22): Show | a0001c0004t0002g0137a0001c0004t0010g0127a0001c0004t0010g0148others(32): Show | 35 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 18/22 | c.2391T>C | p.Ser797Ser | 2790/21157 | 2391/2886 | 797/961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/1 | a0001 | 961 | 184 | 61 | 27 | 78 | 3 | 14 | subcellular location copy fasta | chr2 | 69452997 | 69648739 |
| 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
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | c0006 | 2886 | 7 | 6 | 1 | 0 | 0 | 0 | copy fasta | chr2 | 69452997 | 69648739 |
| 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | a0001c0006 | 7 | 6 | 1 | 0 | 0 | 0 | 2886 | copy fasta | chr2 | 69452997 | 69648739 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69643575 | - | 1 | -0.8359 | -0.8175 | -0.7998 | 0.0361 | acceptor | a0001c0006 | HG00735.hp2 | NA20300.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69642878 | - | 2 | -0.9940 | -0.9933 | -0.9911 | 0.0029 | acceptor | a0001c0006 | NA19030.hp2 | HG02818.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69643274 | - | 2 | 0.9738 | 0.9683 | 0.9638 | 0.0100 | donor | a0001c0006 | HG00735.hp2 | NA20300.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69556860 | - | 3 | -0.9991 | -0.9990 | -0.9990 | 0.0001 | acceptor | a0001c0006 | HG00735.hp2 | NA19030.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69556978 | - | 3 | 0.9937 | 0.9936 | 0.9934 | 0.0003 | donor | a0001c0006 | HG01884.hp2 | HG03453.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69544436 | - | 4 | -0.9988 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0001c0006 | HG00735.hp2 HG02630.hp1 |
HG03453.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69544544 | - | 4 | 0.9973 | 0.9972 | 0.9972 | 0.0000 | donor | a0001c0006 | HG03453.hp1 | HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 NA19030.hp2 others(1): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69542523 | - | 5 | -0.9994 | -0.9993 | -0.9993 | 0.0001 | acceptor | a0001c0006 | HG03453.hp1 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69542665 | - | 5 | 0.9920 | 0.9910 | 0.9910 | 0.0010 | donor | a0001c0006 | HG03453.hp1 | HG01884.hp2 NA19030.hp2 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69532041 | - | 6 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG03453.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69532162 | - | 6 | 0.9884 | 0.9880 | 0.9880 | 0.0003 | donor | a0001c0006 | HG00735.hp2 HG02630.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69530625 | - | 7 | -0.9933 | -0.9933 | -0.9932 | 0.0001 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69530706 | - | 7 | 0.9883 | 0.9883 | 0.9883 | 0.0000 | donor | a0001c0006 | HG03453.hp1 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69530008 | - | 8 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69530140 | - | 8 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0001c0006 | HG03453.hp1 | HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 NA19030.hp2 others(1): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69527216 | - | 9 | -0.9951 | -0.9951 | -0.9951 | 0.0000 | acceptor | a0001c0006 | HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 HG03453.hp1 others(2): Show |
HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 HG03453.hp1 others(2): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69527319 | - | 9 | 0.9931 | 0.9930 | 0.9931 | 0.0000 | donor | a0001c0006 | HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 HG03453.hp1 others(2): Show |
HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 HG03453.hp1 others(2): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69525033 | - | 10 | -0.9821 | -0.9821 | -0.9818 | 0.0003 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69525112 | - | 10 | 0.9746 | 0.9746 | 0.9744 | 0.0002 | donor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69520834 | - | 11 | -0.9930 | -0.9930 | -0.9930 | 0.0000 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69520988 | - | 11 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69518954 | - | 12 | -0.9898 | -0.9898 | -0.9898 | 0.0001 | acceptor | a0001c0006 | HG03453.hp1 | HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 NA19030.hp2 others(1): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69519240 | - | 12 | 0.9839 | 0.9839 | 0.9839 | 0.0000 | donor | a0001c0006 | HG03453.hp1 | HG00735.hp2 HG01884.hp2 HG02630.hp1 HG02818.hp1 NA19030.hp2 others(1): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69514471 | - | 13 | -0.9927 | -0.9927 | -0.9921 | 0.0007 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG03453.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69514749 | - | 13 | 0.9843 | 0.9843 | 0.9838 | 0.0005 | donor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69509231 | - | 14 | -0.9859 | -0.9859 | -0.9849 | 0.0010 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69509460 | - | 14 | 0.9353 | 0.9340 | 0.9340 | 0.0013 | donor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69507421 | - | 15 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69507578 | - | 15 | 0.9674 | 0.9613 | 0.9613 | 0.0061 | donor | a0001c0006 | HG00735.hp2 HG02630.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69505569 | - | 16 | -0.9749 | -0.9749 | -0.9741 | 0.0008 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG03453.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69505673 | - | 16 | 0.9841 | 0.9835 | 0.9835 | 0.0007 | donor | a0001c0006 | HG03453.hp1 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69495985 | - | 17 | -0.7512 | -0.7322 | -0.7022 | 0.0490 | acceptor | a0001c0006 | NA20300.hp1 | HG01884.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69496080 | - | 17 | 0.8283 | 0.8037 | 0.7944 | 0.0339 | donor | a0001c0006 | HG01884.hp2 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69482711 | - | 18 | -0.2542 | -0.2537 | -0.2434 | 0.0108 | acceptor | a0001c0006 | HG01884.hp2 NA19030.hp2 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69482812 | - | 18 | 0.2278 | 0.1915 | 0.1912 | 0.0366 | donor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 NA19030.hp2 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69480860 | - | 19 | -0.7720 | -0.7720 | -0.7090 | 0.0630 | acceptor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69480961 | - | 19 | 0.7581 | 0.7581 | 0.7420 | 0.0161 | donor | a0001c0006 | HG01884.hp2 NA19030.hp2 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69478951 | - | 20 | -0.9173 | -0.9129 | -0.9129 | 0.0043 | acceptor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69479061 | - | 20 | 0.8298 | 0.8281 | 0.8281 | 0.0017 | donor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69476880 | - | 21 | -0.9389 | -0.9381 | -0.9381 | 0.0008 | acceptor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69476990 | - | 21 | 0.7103 | 0.7065 | 0.7065 | 0.0039 | donor | a0001c0006 | HG00735.hp2 HG02630.hp1 HG03453.hp1 |
HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69475963 | - | 22 | 0.3104 | 0.3104 | 0.3084 | 0.0020 | donor | a0001c0006 | HG01884.hp2 HG02818.hp1 NA19030.hp2 NA20300.hp1 |
HG00735.hp2 HG02630.hp1 HG03453.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69586326
|
c.164-29348A>G | Metabolite levels (Dihydroxy docosatrienoic acid)others(10): Show | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Genome-wide association study of a heart failure r others(107): Show |
1,260 African American individuals/ | AAK1 | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69612501
|
c.163+30377A>G |
Serum thyroid-stimulating hormone levels others(4): Show |
a0001a0002a0003a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008a0001c0001t0011others(112): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(196): Show | HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(196): Show |
Genetic variants associated with serum thyroid sti others(98): Show |
4,501 European ancestry individuals, 351 African A others(20): Show |
AAK1 | AAK1 | rs6546537-C | - | MODIFIER | chr2 | T | C |
|
chr2:69496578
|
c.2270-498G>A | Parkinson's disease (age of onset)6.85 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0014a0001c0001t0020others(84): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(135): Show | HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 others(135): Show |
Genomewide association study for onset age in Park others(14): Show |
857 European ancestry familial cases, 440 idiopath others(47): Show |
AAK1 | AAK1 | rs7577851-T | - | MODIFIER | chr2 | C | T |
|
chr2:69586326
|
c.164-29348A>G | Red blood cell count | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 445,000 European ancestry individual others(2): Show |
AAK1 | rs12987661-? | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Hematocrit0.019083 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
562,259 European ancestry individuals/ | NR | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Hematocrit | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
737,823 African American or Afro-Caribbean, Africa others(116): Show |
NR | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Hemoglobin concentration0.020388 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
563,946 European ancestry individuals/ | NR | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Urate levels0.041324 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals/ | AAK1 | AAK1 | rs12987661-T | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Urate levels0.0401 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
174,111 European, East Asian, African American, So others(125): Show |
NR | AAK1 | rs12987661-T | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Urate levels0.0485 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
174,111 European, East Asian, African American, So others(125): Show |
NR | AAK1 | rs12987661-T | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Urate levels0.0426 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals, 125,725 Eas others(132): Show |
AAK1 | AAK1 | rs12987661-T | - | MODIFIER | chr2 | T | C |
|
chr2:69593876
|
c.164-36898T>G | Serum urate levels0.0394 | a0001a0002a0003a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(3): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(9): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(12): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02132.hp2 HG02145.hp2 others(12): Show |
A genome-wide association analysis reveals new pat others(25): Show |
630,117 European ancestry individuals/ | AAK1 | rs11693363-A | - | MODIFIER | chr2 | A | C | |
|
chr2:69593876
|
c.164-36898T>G | Gout1.0799341 | a0001a0002a0003a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(3): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(9): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(12): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02132.hp2 HG02145.hp2 others(12): Show |
A genome-wide association analysis reveals new pat others(25): Show |
100,671 European ancestry cases, 2,106,212 Europea others(20): Show |
AAK1 | rs11693363-A | - | MODIFIER | chr2 | A | C | |
|
chr2:69586326
|
c.164-29348A>G | Gout1.0955976 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
A genome-wide association analysis reveals new pat others(25): Show |
77,627 European ancestry cases, 933,894 European a others(17): Show |
AAK1 | rs12987661-T | - | MODIFIER | chr2 | T | C | |
|
chr2:69496578
|
c.2270-498G>A | Calcium levels0.0203 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0014a0001c0001t0020others(84): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(135): Show | HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 others(135): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
313,387 European ancestry individuals, 5,576 Afric others(64): Show |
NR | AAK1 | rs7577851-T | - | MODIFIER | chr2 | C | T |
|
chr2:69586326
|
c.164-29348A>G | Urate levels0.0384 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,087 European ancestry individuals, 6,011 Afric others(64): Show |
NR | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69593876
|
c.164-36898T>G | Urate levels0.0288 | a0001a0002a0003a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(3): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(9): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(12): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02132.hp2 HG02145.hp2 others(12): Show |
Urate, Blood Pressure, and Cardiovascular Disease: others(76): Show |
454,183 European ancestry individuals/ | NR | AAK1 | rs11693363-A | - | MODIFIER | chr2 | A | C |
|
chr2:69592442
|
c.164-35464A>G | Height | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008a0001c0001t0011others(130): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(221): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(221): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
AAK1 | rs2311837-? | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Hemoglobin concentration | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
746,431 African American or Afro-Caribbean, Africa others(116): Show |
NR | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69593876
|
c.164-36898T>G | Serum urate levels0.0419 | a0001a0002a0003a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(3): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(9): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(12): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02132.hp2 HG02145.hp2 others(12): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
677,373 European ancestry individuals/ | AAK1 | rs11693363-A | - | MODIFIER | chr2 | A | C | |
|
chr2:69496578
|
c.2270-498G>A | Height0.014 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0014a0001c0001t0020others(84): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(135): Show | HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 others(135): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AAK1 | rs7577851-T | - | MODIFIER | chr2 | C | T | |
|
chr2:69640739
|
c.163+2139G>A | Height0.0076 | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008a0001c0001t0011others(109): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(195): Show | HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(195): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AAK1 | rs3899666-C | - | MODIFIER | chr2 | C | T | |
|
chr2:69586326
|
c.164-29348A>G | Height0.0078 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Serum urate levels0.042 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
219,768 East Asian ancestry individuals, 677,373 E others(50): Show |
AAK1 | rs12987661-T | - | MODIFIER | chr2 | T | C | |
|
chr2:69481235
|
c.2468-274A>G | Body surface area0.00353385 | a0001a0002a0003a0005a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(7): Show | a0001c0001t0105a0001c0003t0012a0001c0003t0026a0001c0003t0030a0001c0003t0046others(33): Show | a0001c0001t0105g0108a0001c0003t0012g0088a0001c0003t0012g0091a0001c0003t0012g0095a0001c0003t0012g0096others(49): Show | HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00735.hp2 HG01074.hp2 others(49): Show |
Body surface area is a potential obesity index: It others(66): Show |
337,198 British ancestry individuals/ | AAK1 | rs6546523-? | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Hemoglobin0.0159 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
A cross-population atlas of genetic associations f others(24): Show |
350,474 European ancestry individuals, 152,447 Eas others(29): Show |
AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Hematocrit0.0171 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
A cross-population atlas of genetic associations f others(24): Show |
350,475 European ancestry individuals, 153,015 Eas others(29): Show |
AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Serum uric acid levels0.0302 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
A cross-population atlas of genetic associations f others(24): Show |
343,836 European ancestry individuals, 129,405 Eas others(29): Show |
AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C | |
|
chr2:69586326
|
c.164-29348A>G | Hematocrit0.019212916 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AAK1 | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Hemoglobin0.0201188 | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AAK1 | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C |
|
chr2:69586326
|
c.164-29348A>G | Haemoglobin concentration (UKB data field 30020)others(18): Show | a0001a0002a0003a0004a0007 | a0001c0001a0001c0004a0001c0006a0001c0008a0001c0026others(4): Show | a0001c0001t0007a0001c0001t0037a0001c0001t0077a0001c0004t0017a0001c0004t0067others(10): Show | a0001c0001t0007g0081a0001c0001t0037g0009a0001c0001t0077g0072a0001c0004t0017g0073a0001c0004t0017g0075others(13): Show | HG00099.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02132.hp2 others(13): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | AAK1 | rs12987661-C | - | MODIFIER | chr2 | T | C | |
|
chr2:69492724
|
c.2365+3261C>T | Dental caries5.849 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(18): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0013a0001c0001t0014others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(219): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 others(219): Show |
Genome-wide association meta-analysis identifies t others(44): Show |
30,859 Japanese ancestry cases, 14,666 Japanese an others(155): Show |
AAK1 | rs11681089-G | - | MODIFIER | chr2 | G | A |