| geneid | 79719 |
|---|---|
| ensemblid | ENSG00000103591.13 |
| hgncid | 25662 |
| symbol | AAGAB |
| name | alpha and gamma adaptin binding protein |
| refseq_nuc | NM_024666.5 |
| refseq_prot | NP_078942.3 |
| ensembl_nuc | ENST00000261880.10 |
| ensembl_prot | ENSP00000261880.5 |
| mane_status | MANE Select |
| chr | chr15 |
| start | 67200667 |
| end | 67254661 |
| strand | - |
| ver | v1.2 |
| region | chr15:67200667-67254661 |
| region5000 | chr15:67195667-67259661 |
| regionname0 | AAGAB_chr15_67200667_67254661 |
| regionname5000 | AAGAB_chr15_67195667_67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:67201248
|
G | C | 0.3132 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(103): Show | 119 | 380 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 10/10 | c.*1573C>G | 1573 | |||||
|
chr15:67201289
|
G | GA | 0.2895 | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0015a0001c0001t0017others(2): Show | a0001c0001t0011g0012a0001c0001t0015g0253a0001c0001t0017g0258others(104): Show | 110 | 380 | 1 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 10/10 | c.*1531dupT | 1531 | |||||
|
chr15:67201966
|
T | G | 0.3079 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0016others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 117 | 380 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 10/10 | c.*855A>C | 855 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:67205837
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(354): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(335): Show | 357 | 380 | 0.9395 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | c.716-1689T>C | ||||||
|
chr15:67205926
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(353): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(334): Show | 356 | 380 | 0.9368 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | c.716-1778A>G | ||||||
|
chr15:67209444
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(102): Show | 118 | 380 | 0.3105 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 6/9 | c.618+18A>G | ||||||
|
chr15:67209639
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(102): Show | 118 | 380 | 0.3105 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-95G>A | ||||||
|
chr15:67209828
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(131): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(117): Show | 134 | 380 | 0.3526 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-284T>A | ||||||
|
chr15:67210234
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(103): Show | 119 | 380 | 0.3132 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-690C>T | ||||||
|
chr15:67212728
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(71): Show | 85 | 380 | 0.2237 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-3184C>T | ||||||
|
chr15:67216170
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(353): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(334): Show | 356 | 380 | 0.9368 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-6626T>C | ||||||
|
chr15:67216442
|
GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(184): Show | 203 | 380 | 0.5342 | -1 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-6899delT | ||||||
|
chr15:67217809
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(376): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(357): Show | 379 | 380 | 0.9974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-8265G>A | ||||||
|
chr15:67218846
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(376): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(357): Show | 379 | 380 | 0.9974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-9302C>T | ||||||
|
chr15:67226302
|
G | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0278a0001c0001t0001g0295a0001c0001t0001g0322others(5): Show | 9 | 380 | 0.0237 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+5512C>T | ||||||
|
chr15:67229916
|
G | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0012 | 2 | 380 | 0.0053 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+1898C>T | ||||||
|
chr15:67231547
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(353): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(334): Show | 356 | 380 | 0.9368 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+267G>A | ||||||
|
chr15:67236212
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(376): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(357): Show | 379 | 380 | 0.9974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 3/9 | c.362-144G>A | ||||||
|
chr15:67236314
|
G | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0278a0001c0001t0001g0295a0001c0001t0001g0322others(5): Show | 9 | 380 | 0.0237 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 3/9 | c.361+94C>G | ||||||
|
chr15:67240036
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(103): Show | 119 | 380 | 0.3132 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-3216A>G | ||||||
|
chr15:67241040
|
T | TACAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0277a0001c0001t0001g0278others(45): Show | 50 | 380 | 0.1316 | 4 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-4224_74-4221dupGTGT | ||||||
|
chr15:67242429
|
CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp1 others(107): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(94): Show | 110 | 380 | 0.2895 | -18 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-5627_74-5610delTTTTTTTTTTTTTTTTTT | ||||||
|
chr15:67243093
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(106): Show | 122 | 380 | 0.3211 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-6273T>C | ||||||
|
chr15:67243658
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(103): Show | 119 | 380 | 0.3132 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-6838G>T | ||||||
|
chr15:67246198
|
C | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0012 | 2 | 380 | 0.0053 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+8361G>C | ||||||
|
chr15:67246391
|
C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(110): Show | 127 | 380 | 0.3342 | 1 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+8167dupT | ||||||
|
chr15:67253260
|
CGGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(149): Show | 165 | 380 | 0.4342 | -3 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+1296_73+1298delCCC |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 1/1 | a0001 | 315 | 208 | 71 | 35 | 73 | 8 | 19 | subcellular location copy fasta | chr15 | 67195667 | 67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 1/1 | c0001 | 948 | 198 | 71 | 34 | 65 | 8 | 18 | copy fasta | chr15 | 67195667 | 67259661 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 0/0 | t0011 | 2186 | 2 | 0 | 2 | 0 | 0 | 0 | copy fasta | chr15 | 67195667 | 67259661 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 0/0 | g0012 | 2 | 0 | 2 | 0 | 0 | 0 | chr15 | 67195667 | 67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 1/1 | a0001c0001 | 198 | 71 | 34 | 65 | 8 | 18 | 948 | copy fasta | chr15 | 67195667 | 67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 0/0 | a0001c0001t0011 | 2 | 0 | 2 | 0 | 0 | 0 | 3133 | copy fasta | chr15 | 67195667 | 67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 0/0 | a0001c0001t0011g0012 | 2 | 0 | 2 | 0 | 0 | 0 | chr15 | 67195667 | 67259661 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 67254559 | - | 1 | -0.6987 | -0.6987 | -0.6987 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67236630 | - | 2 | -0.9897 | -0.9897 | -0.9897 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67236820 | - | 2 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67236408 | - | 3 | -0.9830 | -0.9830 | -0.9830 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67236504 | - | 3 | 0.9739 | 0.9739 | 0.9739 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67235979 | - | 4 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67236068 | - | 4 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67231814 | - | 5 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67231897 | - | 5 | 0.9633 | 0.9633 | 0.9633 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67209462 | - | 6 | -0.9934 | -0.9934 | -0.9934 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67209544 | - | 6 | 0.9843 | 0.9843 | 0.9843 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67208562 | - | 7 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67208658 | - | 7 | 0.9841 | 0.9841 | 0.9841 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67204044 | - | 8 | -0.9639 | -0.9639 | -0.9639 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67204148 | - | 8 | 0.8856 | 0.8855 | 0.8856 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67203548 | - | 9 | -0.6085 | -0.6085 | -0.6085 | 0.0000 | acceptor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67203597 | - | 9 | 0.6876 | 0.6876 | 0.6876 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 67202898 | - | 10 | 0.7977 | 0.7977 | 0.7977 | 0.0000 | donor | a0001c0001t0011g0012 | HG01070.hp2 HG01071.hp1 |
HG01070.hp2 HG01071.hp1 |
AAGAB | chr15 | 67195667 | 67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:67199963
|
c.*2858C>T | Waist-hip ratio0.0164 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Meta-analysis of genome-wide association studies f others(69): Show |
316,772 European ancestry male individuals/ | NR | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for body mass indexothers(14): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
New genetic loci link adipose and insulin biology others(25): Show |
up to 56,910 European ancestry men, up to 86,570 E others(377): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for body mass indexothers(14): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
New genetic loci link adipose and insulin biology others(25): Show |
up to 56,910 European ancestry men, up to 86,570 E others(377): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Eosinophil counts | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 440,000 European ancestry individual others(2): Show |
SMAD3 - AAGAB | rs7166081-? | - | MODIFIER | chr15 | G | A | |
|
chr15:67199963
|
c.*2858C>T | Body fat percentage0.016 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genetic evidence for different adiposity phenotype others(82): Show |
442,278 European ancestry individuals/ | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A | |
|
chr15:67199963
|
c.*2858C>T |
Metabolic biomarkers (multivariate analysis)< others(4): Show |
a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genetic evidence for different adiposity phenotype others(82): Show |
389,354 European ancestry individuals/ | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A | |
|
chr15:67199963
|
c.*2858C>T | Whole body fat mass (UKB data field 23100)others(11): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
New role of fat-free mass in cancer risk linked wi others(26): Show |
337,196 European ancestry individuals/ | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A | |
|
chr15:67199963
|
c.*2858C>T | Height0.0125 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
A saturated map of common genetic variants associa others(22): Show |
472,730 East Asian ancestry individuals/ | SMAD3 - AAGAB | rs7166081-G | - | MODIFIER | chr15 | G | A | |
|
chr15:67199963
|
c.*2858C>T | Eosinophil counts0.016268386 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AAGAB, SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)others(50): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genome-wide meta-analysis of 241,258 adults accoun others(68): Show |
97,400 European ancestry women, 63,892 European an others(531): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)others(50): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genome-wide meta-analysis of 241,258 adults accoun others(68): Show |
97,400 European ancestry women, 63,892 European an others(531): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for BMI in non-smokersothers(17): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genome-wide meta-analysis of 241,258 adults accoun others(68): Show |
77,113 European ancestry women, 47,319 European an others(530): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for BMI in non-smokersothers(17): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genome-wide meta-analysis of 241,258 adults accoun others(68): Show |
77,113 European ancestry women, 47,319 European an others(530): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for BMI (adjusted for smoking behaviour)others(35): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genome-wide meta-analysis of 241,258 adults accoun others(68): Show |
97,400 European ancestry women, 63,892 European an others(531): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
|
chr15:67199963
|
c.*2858C>T | Waist circumference adjusted for BMI (adjusted for smoking behaviour)others(35): Show | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(215): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(232): Show |
Genome-wide meta-analysis of 241,258 adults accoun others(68): Show |
97,400 European ancestry women, 63,892 European an others(531): Show |
SMAD3 | SMAD3 - AAGAB | rs7166081-A | - | MODIFIER | chr15 | G | A |
