| geneid | 10157 |
|---|---|
| ensemblid | ENSG00000008311.16 |
| hgncid | 17366 |
| symbol | AASS |
| name | aminoadipate-semialdehyde synthase |
| refseq_nuc | NM_005763.4 |
| refseq_prot | NP_005754.2 |
| ensembl_nuc | ENST00000417368.7 |
| ensembl_prot | ENSP00000403768.2 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 122073549 |
| end | 122144249 |
| strand | - |
| ver | v1.2 |
| region | chr7:122073549-122144249 |
| region5000 | chr7:122068549-122149249 |
| regionname0 | AASS_chr7_122073549_122144249 |
| regionname5000 | AASS_chr7_122068549_122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:122107950
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(240): Show | 300 | 384 | 0.7813 | -1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+5167delT | ||||||
|
chr7:122134772
|
T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(317): Show | 383 | 384 | 0.9974 | 1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-15-1032dupC |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | a0001 | 926 | 368 | 81 | 74 | 164 | 11 | 36 | subcellular location copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | c0001 | 2781 | 363 | 78 | 74 | 164 | 10 | 35 | copy fasta | chr7 | 122068549 | 122149249 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/0 | t0002 | 3045 | 99 | 4 | 23 | 52 | 6 | 13 | copy fasta | chr7 | 122068549 | 122149249 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | g0001 | 13 | 0 | 3 | 5 | 3 | 2 | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | a0001c0001 | 363 | 78 | 74 | 164 | 10 | 35 | 2781 | copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/0 | a0001c0001t0002 | 98 | 4 | 23 | 51 | 6 | 13 | 5825 | copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | a0001c0001t0002g0001 | 13 | 0 | 3 | 5 | 3 | 2 | chr7 | 122068549 | 122149249 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 122144161 | - | 1 | -0.9104 | -0.9061 | -0.9061 | 0.0043 | acceptor | a0001c0001t0002g0001 | HG02698.hp2 | HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 others(5): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122133517 | - | 2 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122133741 | - | 2 | 0.9857 | 0.9857 | 0.9857 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122129361 | - | 3 | -0.9862 | -0.9862 | -0.9862 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122129537 | - | 3 | 0.9725 | 0.9725 | 0.9725 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122126375 | - | 4 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122126459 | - | 4 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122118563 | - | 5 | -0.9841 | -0.9840 | -0.9841 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122118630 | - | 5 | 0.9862 | 0.9862 | 0.9862 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122118307 | - | 6 | -0.9739 | -0.9739 | -0.9739 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122118453 | - | 6 | 0.9855 | 0.9855 | 0.9855 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122116879 | - | 7 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122116957 | - | 7 | 0.9975 | 0.9975 | 0.9975 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122116633 | - | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122116760 | - | 8 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122115074 | - | 9 | -0.9348 | -0.9348 | -0.9348 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122115222 | - | 9 | 0.9548 | 0.9548 | 0.9548 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122113598 | - | 10 | -0.9920 | -0.9920 | -0.9920 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122113720 | - | 10 | 0.9808 | 0.9808 | 0.9808 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122113118 | - | 11 | -0.9944 | -0.9944 | -0.9944 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122113229 | - | 11 | 0.9815 | 0.9815 | 0.9815 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122101621 | - | 12 | -0.9834 | -0.9834 | -0.9834 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122101680 | - | 12 | 0.9937 | 0.9937 | 0.9937 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122101371 | - | 13 | -0.9916 | -0.9916 | -0.9916 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122101438 | - | 13 | 0.9326 | 0.9326 | 0.9326 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122098745 | - | 14 | -0.7047 | -0.7047 | -0.7047 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122098866 | - | 14 | 0.8571 | 0.8571 | 0.8571 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122098450 | - | 15 | -0.9941 | -0.9941 | -0.9941 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122098576 | - | 15 | 0.9835 | 0.9835 | 0.9835 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122093048 | - | 16 | -0.9643 | -0.9643 | -0.9643 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122093158 | - | 16 | 0.9827 | 0.9827 | 0.9827 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122092843 | - | 17 | -0.9747 | -0.9747 | -0.9747 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122092951 | - | 17 | 0.9843 | 0.9843 | 0.9843 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122091703 | - | 18 | -0.9419 | -0.9419 | -0.9419 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122091843 | - | 18 | 0.9343 | 0.9343 | 0.9343 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122086012 | - | 19 | -0.9983 | -0.9982 | -0.9983 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122086179 | - | 19 | 0.9103 | 0.9103 | 0.9103 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122081500 | - | 20 | -0.9354 | -0.9354 | -0.9354 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122081595 | - | 20 | 0.8295 | 0.8295 | 0.8295 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122079597 | - | 21 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122079712 | - | 21 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122078862 | - | 22 | -0.9013 | -0.9013 | -0.9013 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122078950 | - | 22 | 0.7255 | 0.7255 | 0.7255 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122077838 | - | 23 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122078014 | - | 23 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122076607 | - | 24 | 0.9422 | 0.9422 | 0.9422 | 0.0000 | donor | a0001c0001t0002g0001 | HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 others(8): Show |
AASS | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:122145922
|
c.-1777A>G | Memory decline x sex interaction0.010824 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0110a0001c0001t0002g0001a0001c0001t0002g0190a0001c0001t0002g0195a0001c0001t0002g0203others(6): Show | HG00099.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 others(7): Show |
Sex-specific genetic architecture of late-life mem others(16): Show |
24,216 European ancestry individuals, 3,367 Africa others(23): Show |
AASS - RPL31P37 | rs62472936-? | - | MODIFIER | chr7 | T | C |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 122148608:splice 122148608:variant goto | AASSupstream_gene_variantc.-4463A>C | AASS Lung 7.597 -0.135 | 91034228 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0003a0002c0002a0003c0004a0004c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0015others(223): Show | HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 others(264): Show |
0.572 | 394 | 515 | 10 | chr7_122148608_T_G_b38 | - | MODIFIER | chr7 | T | G | TogoVar |
| 122145529:splice 122145529:variant goto | AASSupstream_gene_variantc.-1384A>G | AASS Cells_Cultured_fibroblasts 3.640 -0.058 | 3319130 | a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0015others(125): Show | HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 others(148): Show |
0.391 | 413 | 508 | 10 | chr7_122145529_T_C_b38 | - | MODIFIER | chr7 | T | C | TogoVar |
| 122145529:splice 122145529:variant goto | AASSupstream_gene_variantc.-1384A>G | AASS Lung 4.147 -0.095 | 3319130 | a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0015others(125): Show | HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 others(148): Show |
0.394 | 377 | 474 | 10 | chr7_122145529_T_C_b38 | - | MODIFIER | chr7 | T | C | TogoVar |
| 122145529:splice 122145529:variant goto | AASSupstream_gene_variantc.-1384A>G | AASS Whole_Blood 6.147 -0.148 | 3319130 | a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0015others(125): Show | HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 others(148): Show |
0.389 | 498 | 623 | 10 | chr7_122145529_T_C_b38 | - | MODIFIER | chr7 | T | C | TogoVar |