| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69459154
|
A | G | 0.6980 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(121): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(205): Show | 208 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*16715T>C | 16715 | |||||
|
chr2:69460092
|
C | T | 0.3121 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(90): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(44): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(90): Show | 93 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15777G>A | 15777 | |||||
|
chr2:69460594
|
A | G | 0.7047 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(207): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(123): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(207): Show | 210 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15275T>C | 15275 | |||||
|
chr2:69460599
|
C | G | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*15270G>C | 15270 | |||||
|
chr2:69462187
|
T | G | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13682A>C | 13682 | |||||
|
chr2:69462296
|
G | C | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13573C>G | 13573 | |||||
|
chr2:69462377
|
A | T | 0.2248 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(64): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(31): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(64): Show | 67 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13492T>A | 13492 | |||||
|
chr2:69462676
|
GA | G | 0.3087 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(89): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(45): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(89): Show | 92 | 298 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*13192delT | 13192 | |||||
|
chr2:69463055
|
A | G | 0.7013 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(122): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(206): Show | 209 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*12814T>C | 12814 | |||||
|
chr2:69464470
|
C | A | 0.3087 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(89): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(45): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(89): Show | 92 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*11399G>T | 11399 | |||||
|
chr2:69465874
|
C | T | 0.2584 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(74): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(40): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(74): Show | 77 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*9995G>A | 9995 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69488149
|
C | CGT | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0116others(8): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0007g0081others(10): Show | 13 | 298 | 0.0436 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-5339_2366-5338dupAC | ||||||
|
chr2:69492616
|
G | A | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0027g0128others(1): Show | 4 | 298 | 0.0134 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3369C>T | ||||||
|
chr2:69492890
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0.9966 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3095A>G | ||||||
|
chr2:69500698
|
T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0021a0001c0001t0056others(5): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0021g0278others(6): Show | 9 | 298 | 0.0302 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-4620_2270-4619dupGT | ||||||
|
chr2:69515592
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(146): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0004g0206others(246): Show | 249 | 298 | 0.8356 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-843T>C | ||||||
|
chr2:69518420
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(241): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(135): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(241): Show | 244 | 298 | 0.8188 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+534A>C | ||||||
|
chr2:69524617
|
T | TAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0.9966 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+414_1055+415dupCT | ||||||
|
chr2:69539313
|
TC | T | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0027a0001c0004t0010 | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0027g0128others(2): Show | 5 | 298 | 0.0168 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3209delG | ||||||
|
chr2:69554865
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(129): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0004g0206others(221): Show | 224 | 298 | 0.7517 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+1995G>C | ||||||
|
chr2:69630016
|
A | C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 298 | 0.0034 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.163+12862T>G | ||||||
|
chr2:69640053
|
A | ACACTCT | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0104a0001c0001t0120others(1): Show | a0001c0001t0002g0114a0001c0001t0104g0292a0001c0001t0120g0187others(1): Show | 4 | 298 | 0.0134 | 6 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.163+2824_163+2825insAGAGTG |
| 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 | 0/1 | c0001 | 2886 | 127 | 31 | 24 | 63 | 1 | 7 | copy fasta | chr2 | 69452997 | 69648739 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | t0002 | 18271 | 14 | 3 | 0 | 9 | 0 | 2 | copy fasta | chr2 | 69452997 | 69648739 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | g0114 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | 0/1 | a0001c0001 | 127 | 31 | 24 | 63 | 1 | 7 | 2886 | 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | a0001c0001t0002 | 12 | 3 | 0 | 8 | 0 | 1 | 21156 | 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | a0001c0001t0002g0114 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | -0.8000 | -0.8000 | -0.8000 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69642878 | - | 2 | -0.9918 | -0.9918 | -0.9918 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69643274 | - | 2 | 0.9638 | 0.9638 | 0.9638 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69556860 | - | 3 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69556978 | - | 3 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69544436 | - | 4 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69544544 | - | 4 | 0.9972 | 0.9972 | 0.9972 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69542523 | - | 5 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69542665 | - | 5 | 0.9921 | 0.9921 | 0.9921 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69532041 | - | 6 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69532162 | - | 6 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69530625 | - | 7 | -0.9933 | -0.9933 | -0.9933 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69530706 | - | 7 | 0.9883 | 0.9883 | 0.9883 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69530008 | - | 8 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69530140 | - | 8 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69527216 | - | 9 | -0.9951 | -0.9951 | -0.9951 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69527319 | - | 9 | 0.9930 | 0.9930 | 0.9930 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69525033 | - | 10 | -0.9799 | -0.9799 | -0.9799 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69525112 | - | 10 | 0.9750 | 0.9750 | 0.9750 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69520834 | - | 11 | -0.9933 | -0.9932 | -0.9933 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69520988 | - | 11 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69518954 | - | 12 | -0.9907 | -0.9907 | -0.9907 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69519240 | - | 12 | 0.9845 | 0.9845 | 0.9845 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69514471 | - | 13 | -0.9924 | -0.9924 | -0.9924 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69514749 | - | 13 | 0.9842 | 0.9842 | 0.9842 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69509231 | - | 14 | -0.9858 | -0.9858 | -0.9858 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69509460 | - | 14 | 0.9337 | 0.9337 | 0.9337 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69507421 | - | 15 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69507578 | - | 15 | 0.9569 | 0.9569 | 0.9569 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69505569 | - | 16 | -0.9784 | -0.9784 | -0.9784 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69505673 | - | 16 | 0.9836 | 0.9836 | 0.9836 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69495985 | - | 17 | -0.7338 | -0.7338 | -0.7338 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69496080 | - | 17 | 0.8146 | 0.8145 | 0.8146 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69482711 | - | 18 | -0.4504 | -0.4504 | -0.4504 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69482812 | - | 18 | 0.4690 | 0.4689 | 0.4690 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69480860 | - | 19 | -0.7921 | -0.7921 | -0.7921 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69480961 | - | 19 | 0.7913 | 0.7913 | 0.7913 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69478951 | - | 20 | -0.9460 | -0.9460 | -0.9460 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69479061 | - | 20 | 0.8864 | 0.8864 | 0.8864 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69476880 | - | 21 | -0.9123 | -0.9123 | -0.9123 | 0.0000 | acceptor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69476990 | - | 21 | 0.7086 | 0.7086 | 0.7086 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69475963 | - | 22 | 0.3129 | 0.3129 | 0.3129 | 0.0000 | donor | a0001c0001t0002g0114 | HG01884.hp1 | HG01884.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 |
|---|