| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:67202156
|
T | C | 0.3000 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(111): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(108): Show | 114 | 380 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 10/10 | c.*665A>G | 665 |
| 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 | ||||||
|
chr15:67205892
|
T | TA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(115): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(112): Show | 118 | 380 | 0.3105 | 1 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | c.716-1745dupT | ||||||
|
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 | ||||||
|
chr15:67207073
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | c.715+1489G>A | ||||||
|
chr15:67207711
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | c.715+851C>G | ||||||
|
chr15:67207856
|
TTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(226): Show | 235 | 380 | 0.6184 | -3 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | c.715+703_715+705delGAA | ||||||
|
chr15:67210255
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-711C>T | ||||||
|
chr15:67210431
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-887C>T | ||||||
|
chr15:67211885
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(102): Show | 108 | 380 | 0.2842 | 1 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-2342dupA | ||||||
|
chr15:67211914
|
C | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-2370G>C | ||||||
|
chr15:67212012
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(233): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(227): Show | 236 | 380 | 0.6211 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-2468G>A | ||||||
|
chr15:67214441
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-4897G>A | ||||||
|
chr15:67215376
|
C | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(59): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0002c0002t0002a0002c0002t0012others(2): Show | a0001c0001t0002g0077a0001c0001t0002g0078a0001c0001t0002g0089others(57): Show | 62 | 380 | 0.1632 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-5832G>A | ||||||
|
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 | ||||||
|
chr15:67216248
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.536-6704G>A | ||||||
|
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 | ||||||
|
chr15:67221523
|
T | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077a0001c0001t0002g0078 | 2 | 380 | 0.0053 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+10291A>G | ||||||
|
chr15:67222242
|
G | GCGCA | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01981.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0028a0001c0001t0002g0040a0001c0001t0002g0042others(13): Show | 17 | 380 | 0.0447 | 4 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+9571_535+9572insTGCG | ||||||
|
chr15:67224815
|
T | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(226): Show | 235 | 380 | 0.6184 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+6999A>C | ||||||
|
chr15:67225943
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077a0001c0001t0002g0078 | 2 | 380 | 0.0053 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+5871G>A | ||||||
|
chr15:67227149
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(102): Show | 108 | 380 | 0.2842 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+4665A>G | ||||||
|
chr15:67228564
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(106): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(103): Show | 109 | 380 | 0.2868 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | c.535+3250C>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 | ||||||
|
chr15:67232612
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | c.452-715A>G | ||||||
|
chr15:67235107
|
A | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(102): Show | 108 | 380 | 0.2842 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | c.451+872T>A | ||||||
|
chr15:67235630
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(106): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(103): Show | 109 | 380 | 0.2868 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | c.451+349T>C | ||||||
|
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 | ||||||
|
chr15:67237697
|
T | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-877A>T | ||||||
|
chr15:67238061
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(226): Show | 235 | 380 | 0.6184 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-1241T>C | ||||||
|
chr15:67241040
|
T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG00741.hp1 others(61): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0340a0001c0001t0002g0029a0001c0001t0002g0030others(58): Show | 64 | 380 | 0.1684 | 10 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-4230_74-4221dupGTGTGTGTGT | ||||||
|
chr15:67241206
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-4386A>G | ||||||
|
chr15:67242429
|
CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(74): Show | 79 | 380 | 0.2079 | -8 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-5617_74-5610delTTTTTTTT | ||||||
|
chr15:67242853
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.74-6033T>C | ||||||
|
chr15:67246927
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077a0001c0001t0002g0078 | 2 | 380 | 0.0053 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+7632G>A | ||||||
|
chr15:67247579
|
T | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(234): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(228): Show | 237 | 380 | 0.6237 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+6980A>C | ||||||
|
chr15:67249211
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(107): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(104): Show | 110 | 380 | 0.2895 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+5348A>G | ||||||
|
chr15:67251384
|
A | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(226): Show | 235 | 380 | 0.6184 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+3175T>G | ||||||
|
chr15:67253756
|
T | TA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(61): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0355a0001c0001t0002g0077a0001c0001t0002g0078others(59): Show | 64 | 380 | 0.1684 | 1 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+802dupT | ||||||
|
chr15:67254106
|
A | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(107): Show | 113 | 380 | 0.2974 | 0 | AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | c.73+453T>A |
| 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 | 0/1 | t0002 | 2185 | 107 | 31 | 16 | 46 | 4 | 9 | copy fasta | chr15 | 67195667 | 67259661 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGAB | 0/0 | g0077 | 1 | 0 | 1 | 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 | 0/1 | a0001c0001t0002 | 52 | 30 | 14 | 0 | 3 | 4 | 3132 | 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 | a0001c0001t0002g0077 | 1 | 0 | 1 | 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 | -0.7138 | -0.7138 | -0.7138 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67236630 | - | 2 | -0.9896 | -0.9896 | -0.9896 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67236820 | - | 2 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67236408 | - | 3 | -0.9826 | -0.9826 | -0.9826 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67236504 | - | 3 | 0.9737 | 0.9737 | 0.9737 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67235979 | - | 4 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67236068 | - | 4 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67231814 | - | 5 | -0.9862 | -0.9862 | -0.9862 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67231897 | - | 5 | 0.9633 | 0.9633 | 0.9633 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67209462 | - | 6 | -0.9943 | -0.9943 | -0.9943 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67209544 | - | 6 | 0.9885 | 0.9885 | 0.9885 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67208562 | - | 7 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67208658 | - | 7 | 0.9838 | 0.9838 | 0.9838 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67204044 | - | 8 | -0.9645 | -0.9645 | -0.9645 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67204148 | - | 8 | 0.8853 | 0.8853 | 0.8853 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67203548 | - | 9 | -0.6142 | -0.6142 | -0.6142 | 0.0000 | acceptor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67203597 | - | 9 | 0.6890 | 0.6890 | 0.6890 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 67202898 | - | 10 | 0.7902 | 0.7902 | 0.7902 | 0.0000 | donor | a0001c0001t0002g0077 | HG01167.hp2 | HG01167.hp2 | AAGAB | chr15 | 67195667 | 67259661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 67236212:splice 67236212:variant goto | c.362-144G>A | 1253044 | Benign | AAGAB:79719 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 5 | 7 | 28 | 360 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(355): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(374): Show |
MODIFIER | chr15 | C | T | TogoVar |
| 67231547:splice 67231547:variant goto | c.535+267G>A | 1239423 | Benign | AAGAB:79719 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 5 | 7 | 27 | 337 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0003a0001c0004a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(332): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(351): Show |
MODIFIER | chr15 | C | T | TogoVar |
| 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 | |
|
chr15:67202156
|
c.*665A>G | Height0.0121 | a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019a0001c0001t0021a0002c0002t0002others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0029others(106): Show | HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 others(109): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AAGAB | rs1050285-C | - | MODIFIER | chr15 | T | C | |
|
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 |
