| geneid | 51166 |
|---|---|
| ensemblid | ENSG00000109576.14 |
| hgncid | 17929 |
| symbol | AADAT |
| name | aminoadipate aminotransferase |
| refseq_nuc | NM_016228.4 |
| refseq_prot | NP_057312.1 |
| ensembl_nuc | ENST00000337664.9 |
| ensembl_prot | ENSP00000336808.4 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 170060222 |
| end | 170089956 |
| strand | - |
| ver | v1.2 |
| region | chr4:170060222-170089956 |
| region5000 | chr4:170055222-170094956 |
| regionname0 | AADAT_chr4_170060222_170089956 |
| regionname5000 | AADAT_chr4_170055222_170094956 |
| 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 |
|---|
| 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:170063674
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(176): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(87): Show | 179 | 378 | 0.4735 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 11/12 | c.1134+1045G>C | ||||||
|
chr4:170064247
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(205): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(103): Show | 208 | 378 | 0.5503 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 11/12 | c.1134+472A>G | ||||||
|
chr4:170066485
|
A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(321): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(172): Show | 324 | 378 | 0.8571 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 9/12 | c.963-7T>C | ||||||
|
chr4:170068557
|
C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(272): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(140): Show | 275 | 378 | 0.7275 | 1 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 8/12 | c.900+33dupT | ||||||
|
chr4:170068902
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(147): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(66): Show | 150 | 378 | 0.3968 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 7/12 | c.804-215G>A | ||||||
|
chr4:170070111
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(177): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(88): Show | 180 | 378 | 0.4762 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 6/12 | c.720+476A>G | ||||||
|
chr4:170070660
|
AGGTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(147): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(66): Show | 150 | 378 | 0.3968 | -4 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | c.655-12_655-9delAACC | ||||||
|
chr4:170071396
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(320): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(171): Show | 323 | 378 | 0.8545 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | c.655-744A>G | ||||||
|
chr4:170072620
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(299): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(164): Show | 302 | 378 | 0.7989 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | c.654+516T>C | ||||||
|
chr4:170073403
|
GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(298): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(162): Show | 301 | 378 | 0.7963 | -1 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 4/12 | c.445-59delA | ||||||
|
chr4:170073511
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(299): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(160): Show | 302 | 378 | 0.7989 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 4/12 | c.445-166T>A | ||||||
|
chr4:170073915
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(33): Show | 81 | 378 | 0.2143 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 4/12 | c.445-570G>A | ||||||
|
chr4:170078317
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0048others(5): Show | 14 | 378 | 0.0370 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 4/12 | c.444+192T>C | ||||||
|
chr4:170078709
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(302): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(167): Show | 305 | 378 | 0.8069 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.370-126C>T | ||||||
|
chr4:170080118
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0048others(5): Show | 14 | 378 | 0.0370 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.370-1535A>T | ||||||
|
chr4:170080508
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(296): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(162): Show | 299 | 378 | 0.7910 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.370-1925G>C | ||||||
|
chr4:170081250
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0048a0001c0001t0001g0199others(3): Show | 11 | 378 | 0.0291 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.370-2667G>A | ||||||
|
chr4:170083573
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(300): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(162): Show | 303 | 378 | 0.8016 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.369+3543A>T | ||||||
|
chr4:170085064
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(11): Show | 26 | 378 | 0.0688 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.369+2052A>G | ||||||
|
chr4:170086353
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(13): Show | 29 | 378 | 0.0767 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.369+763G>A | ||||||
|
chr4:170087538
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0048others(6): Show | 15 | 378 | 0.0397 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 2/12 | c.237-290G>T | ||||||
|
chr4:170087545
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(201): Show | 376 | 378 | 0.9947 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 2/12 | c.237-297C>T | ||||||
|
chr4:170087858
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0048others(6): Show | 15 | 378 | 0.0397 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 2/12 | c.236+538C>T | ||||||
|
chr4:170088936
|
ATGGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(14): Show | 30 | 378 | 0.0794 | -4 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 1/12 | c.68-376_68-373delACCA | ||||||
|
chr4:170088950
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0048a0001c0001t0001g0199others(4): Show | 12 | 378 | 0.0318 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 1/12 | c.68-386C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/1 | a0001 | 425 | 378 | 94 | 62 | 154 | 18 | 48 | subcellular location copy fasta | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/1 | c0001 | 1278 | 365 | 94 | 62 | 141 | 18 | 48 | copy fasta | chr4 | 170055222 | 170094956 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/0 | t0001 | 973 | 349 | 88 | 54 | 149 | 17 | 40 | copy fasta | chr4 | 170055222 | 170094956 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 0/0 | g0048 | 2 | 0 | 2 | 0 | 0 | 0 | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/1 | a0001c0001 | 365 | 94 | 62 | 141 | 18 | 48 | 1278 | copy fasta | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/0 | a0001c0001t0001 | 336 | 88 | 54 | 136 | 17 | 40 | 2250 | copy fasta | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 0/0 | a0001c0001t0001g0048 | 2 | 0 | 2 | 0 | 0 | 0 | chr4 | 170055222 | 170094956 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 170089624 | - | 1 | -0.9761 | -0.9761 | -0.9761 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170088396 | - | 2 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170088564 | - | 2 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170087116 | - | 3 | -0.9660 | -0.9660 | -0.9660 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170087248 | - | 3 | 0.9564 | 0.9564 | 0.9564 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170078509 | - | 4 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170078583 | - | 4 | 0.9941 | 0.9941 | 0.9941 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170073136 | - | 5 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170073345 | - | 5 | 0.9953 | 0.9953 | 0.9953 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170070587 | - | 6 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170070652 | - | 6 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170069148 | - | 7 | -0.8918 | -0.8918 | -0.8918 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170069230 | - | 7 | 0.8024 | 0.8024 | 0.8024 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170068591 | - | 8 | -0.9107 | -0.9107 | -0.9107 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170068687 | - | 8 | 0.9792 | 0.9792 | 0.9792 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170067327 | - | 9 | -0.9880 | -0.9880 | -0.9880 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170067388 | - | 9 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170066414 | - | 10 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170066478 | - | 10 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170064719 | - | 11 | -0.7036 | -0.7036 | -0.7036 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170064825 | - | 11 | 0.8966 | 0.8966 | 0.8966 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170061892 | - | 12 | -0.8207 | -0.8207 | -0.8207 | 0.0000 | acceptor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170061993 | - | 12 | 0.8159 | 0.8159 | 0.8159 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 170060969 | - | 13 | 0.6324 | 0.6323 | 0.6324 | 0.0000 | donor | a0001c0001t0001g0048 | HG01069.hp2 HG01071.hp2 |
HG01069.hp2 HG01071.hp2 |
AADAT | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:170088950
|
c.68-386C>T | Sex hormone-binding globulin levels adjusted for BMIothers(21): Show | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0048a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(2): Show | HG00099.hp2 HG00280.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
Using human genetics to understand the disease imp others(38): Show |
180,094 European ancestry men/ | NR | AADAT | rs11732763-A | - | MODIFIER | chr4 | G | A |
|
chr4:170088950
|
c.68-386C>T |
Sex hormone-binding globulin levels0.012 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0048a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(2): Show | HG00099.hp2 HG00280.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
Using human genetics to understand the disease imp others(38): Show |
180,726 European ancestry men/ | NR | AADAT | rs11732763-A | - | MODIFIER | chr4 | G | A |
|
chr4:170081250
|
c.370-2667G>A |
Sex hormone-binding globulin levels0.032 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0048a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(1): Show | HG00099.hp2 HG00280.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 others(6): Show |
Genetic analyses implicate complex links between a others(48): Show |
163,363 British ancestry men/ | AADAT | rs77489187-? | - | MODIFIER | chr4 | C | T | |
|
chr4:170093504
|
c.-3814C>G | Ease of getting up in the morning0.0156 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0046others(15): Show | HG00099.hp2 HG00280.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp2 others(28): Show |
Genome-wide analysis of insomnia in 1,331,010 indi others(57): Show |
385,949 European ancestry individuals/ | NR | AADAT - APOBEC3AP1 | rs79751662-C | - | MODIFIER | chr4 | G | C |