| geneid | 9625 |
|---|---|
| ensemblid | ENSG00000181409.14 |
| hgncid | 21 |
| symbol | AATK |
| name | apoptosis associated tyrosine kinase |
| refseq_nuc | NM_001080395.3 |
| refseq_prot | NP_001073864.2 |
| ensembl_nuc | ENST00000326724.9 |
| ensembl_prot | ENSP00000324196.4 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 81117295 |
| end | 81166221 |
| strand | - |
| ver | v1.2 |
| region | chr17:81117295-81166221 |
| region5000 | chr17:81112295-81171221 |
| regionname0 | AATK_chr17_81117295_81166221 |
| regionname5000 | AATK_chr17_81112295_81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81120022
|
A | G | 0.3234 | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
a0002a0004a0007others(7): Show | a0002c0002a0002c0032a0002c0057others(19): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(109): Show | 119 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/14 | c.3797T>C | p.Phe1266Ser | 4026/5461 | 3797/4125 | 1266/1374 | ||
|
chr17:81121829
|
C | A | 0.5408 | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(196): Show |
a0002a0003a0006others(20): Show | a0002c0002a0002c0032a0002c0057others(44): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(53): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(185): Show | 199 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2107G>T | p.Gly703Cys | 2336/5461 | 2107/4125 | 703/1374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81121344
|
G | A | 0.7935 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0011a0001c0040others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2592C>T | p.Ala864Ala | 2821/5461 | 2592/4125 | 864/1374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81117303
|
G | T | 0.7935 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(74): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*1099C>A | 1099 | |||||
|
chr17:81117553
|
T | C | 0.8016 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(77): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(276): Show | 295 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*849A>G | 849 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81118663
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
a0002a0004a0006others(8): Show | a0002c0002a0002c0032a0002c0057others(20): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(110): Show | 120 | 368 | 0.3261 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4085-221G>A | ||||||
|
chr17:81119140
|
CCAGGTGA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(114): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0002a0002c0032others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(25): Show | a0001c0001t0001g0153a0001c0001t0001g0178a0001c0001t0001g0221others(107): Show | 117 | 368 | 0.3179 | -22 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+218_4084+239delACCCTCACCTGACCCTCACCTG | ||||||
|
chr17:81119229
|
TGGGGCCG others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0032others(24): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(165): Show | 179 | 368 | 0.4864 | -16 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+135_4084+150delGCTCCTTCCCGGCCCC | ||||||
|
chr17:81119342
|
C | CCGCGTGC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(76): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(274): Show | 293 | 368 | 0.7962 | 16 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+37_4084+38insAGAGGTAGGGCACGCG | ||||||
|
chr17:81119627
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(170): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0011others(34): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(45): Show | a0001c0001t0001g0019a0001c0001t0001g0076a0001c0001t0001g0098others(160): Show | 173 | 368 | 0.4701 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | c.3884-47G>A | ||||||
|
chr17:81133217
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(14): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0047a0005c0006others(2): Show | a0002c0002t0001a0003c0047t0001a0005c0006t0003others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0048others(11): Show | 17 | 368 | 0.0462 | -1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.189+1150delA | ||||||
|
chr17:81137257
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0032others(7): Show | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(9): Show | a0001c0001t0001g0189a0001c0001t0016g0291a0002c0002t0001g0016others(21): Show | 27 | 368 | 0.0734 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-2757dupT | ||||||
|
chr17:81138455
|
G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(301): Show | 323 | 368 | 0.8777 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3956_56-3955dupTG | ||||||
|
chr17:81138800
|
C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(325): Show | 349 | 368 | 0.9484 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4301_56-4300dupTG | ||||||
|
chr17:81138954
|
CCCA | C | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01346.hp2 others(3): Show |
a0002a0004a0012others(1): Show | a0002c0002a0004c0005a0012c0016others(1): Show | a0002c0002t0001a0004c0005t0001a0012c0016t0001others(1): Show | a0002c0002t0001g0329a0002c0002t0001g0330a0004c0005t0001g0122others(3): Show | 6 | 368 | 0.0163 | -3 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4456_56-4454delTGG | ||||||
|
chr17:81139641
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(85): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(324): Show | 348 | 368 | 0.9457 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5140A>G | ||||||
|
chr17:81140244
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(330): Show | 355 | 368 | 0.9647 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5743T>C | ||||||
|
chr17:81140671
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(43): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0066a0002c0002others(19): Show | a0001c0001t0016a0001c0066t0001a0002c0002t0001others(21): Show | a0001c0001t0016g0291a0001c0066t0001g0188a0002c0002t0001g0016others(39): Show | 46 | 368 | 0.1250 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6170C>T | ||||||
|
chr17:81140672
|
GGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(43): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0066a0002c0002others(19): Show | a0001c0001t0016a0001c0066t0001a0002c0002t0001others(21): Show | a0001c0001t0016g0291a0001c0066t0001g0188a0002c0002t0001g0016others(39): Show | 46 | 368 | 0.1250 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6173_56-6172delTC | ||||||
|
chr17:81140757
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00733.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0016a0001c0011t0001others(15): Show | a0001c0001t0001g0305a0001c0001t0016g0291a0001c0011t0001g0267others(39): Show | 45 | 368 | 0.1223 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6256A>C | ||||||
|
chr17:81140760
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0032others(7): Show | a0001c0001t0016a0002c0002t0001a0002c0032t0001others(9): Show | a0001c0001t0016g0291a0002c0002t0001g0016a0002c0002t0001g0017others(21): Show | 27 | 368 | 0.0734 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6260_56-6259insT | ||||||
|
chr17:81142279
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00733.hp1 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0032others(14): Show | a0001c0001t0016a0002c0002t0001a0002c0032t0001others(16): Show | a0001c0001t0016g0291a0002c0002t0001g0016a0002c0002t0001g0017others(30): Show | 38 | 368 | 0.1033 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7779dupA | ||||||
|
chr17:81142303
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0011others(53): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(199): Show | 221 | 368 | 0.6005 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7802A>G | ||||||
|
chr17:81142552
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp2 others(110): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0011a0002c0002others(39): Show | a0001c0001t0001a0001c0001t0016a0001c0011t0001others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0098others(100): Show | 113 | 368 | 0.3071 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8051A>G | ||||||
|
chr17:81143119
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(213): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0011others(54): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(195): Show | 216 | 368 | 0.5870 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8618G>A | ||||||
|
chr17:81143195
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(215): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0011others(55): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(69): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(197): Show | 218 | 368 | 0.5924 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8694T>C | ||||||
|
chr17:81144773
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(151): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(137): Show | 154 | 368 | 0.4185 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10272A>G | ||||||
|
chr17:81144802
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(178): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(51): Show | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0034others(167): Show | 181 | 368 | 0.4919 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10301G>A | ||||||
|
chr17:81145245
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(140): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(34): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(40): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(126): Show | 143 | 368 | 0.3886 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10744T>C | ||||||
|
chr17:81145270
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(77): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(276): Show | 300 | 368 | 0.8152 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10770dupT | ||||||
|
chr17:81145708
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 149 | 368 | 0.4049 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11207A>G | ||||||
|
chr17:81145733
|
CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp1 others(61): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0060others(24): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(28): Show | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0213others(55): Show | 64 | 368 | 0.1739 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11234_56-11233delTT | ||||||
|
chr17:81146347
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 148 | 368 | 0.4022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11846T>A | ||||||
|
chr17:81146433
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(130): Show | 147 | 368 | 0.3995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11932G>A | ||||||
|
chr17:81146727
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 148 | 368 | 0.4022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12226A>G | ||||||
|
chr17:81146925
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 148 | 368 | 0.4022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12424A>G | ||||||
|
chr17:81146947
|
T | TAAGAAAA others(320): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0032others(5): Show | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0296a0001c0001t0001g0297others(20): Show | 27 | 368 | 0.0734 | 327 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12447_56-12446insTTTTTTTTTCCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGTTATTTTCTT | ||||||
|
chr17:81147101
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(130): Show | 147 | 368 | 0.3995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12600C>G | ||||||
|
chr17:81147629
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(323): Show | 348 | 368 | 0.9457 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13128T>C | ||||||
|
chr17:81148865
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00642.hp2 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(6): Show | a0001c0001t0001g0302a0001c0001t0001g0331a0002c0002t0001g0016others(12): Show | 17 | 368 | 0.0462 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-14364C>T | ||||||
|
chr17:81151277
|
GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(93): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(342): Show | 367 | 368 | 0.9973 | -1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14660delG | ||||||
|
chr17:81159653
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(319): Show | 344 | 368 | 0.9348 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+6285T>C | ||||||
|
chr17:81164137
|
G | A | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0329a0002c0002t0001g0330 | 2 | 368 | 0.0054 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+1801C>T |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | a0002 | 1374 | 76 | 3 | 10 | 47 | 6 | 9 | subcellular location copy fasta | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | c0002 | 4125 | 70 | 3 | 9 | 45 | 6 | 6 | copy fasta | chr17 | 81112295 | 81171221 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | t0001 | 1337 | 242 | 45 | 39 | 115 | 12 | 30 | copy fasta | chr17 | 81112295 | 81171221 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/0 | g0329 | 1 | 0 | 1 | 0 | 0 | 0 | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | a0002c0002 | 70 | 3 | 9 | 45 | 6 | 6 | 4125 | copy fasta | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | a0002c0002t0001 | 64 | 3 | 6 | 42 | 6 | 6 | 5461 | copy fasta | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/0 | a0002c0002t0001g0329 | 1 | 0 | 1 | 0 | 0 | 0 | chr17 | 81112295 | 81171221 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 81165938 | - | 1 | -0.8431 | -0.8431 | -0.8431 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81134368 | - | 2 | -0.9710 | -0.9709 | -0.9710 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81134501 | - | 2 | 0.9851 | 0.9851 | 0.9851 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81131061 | - | 3 | -0.9945 | -0.9945 | -0.9945 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81131205 | - | 3 | 0.9769 | 0.9769 | 0.9769 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81128470 | - | 4 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81128549 | - | 4 | 0.9925 | 0.9925 | 0.9925 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81127792 | - | 5 | -0.9864 | -0.9863 | -0.9864 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81127910 | - | 5 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81127583 | - | 6 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81127670 | - | 6 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81126427 | - | 7 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81126560 | - | 7 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81124930 | - | 8 | -0.9929 | -0.9929 | -0.9929 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81125014 | - | 8 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81124727 | - | 9 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81124848 | - | 9 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81123194 | - | 10 | -0.9925 | -0.9925 | -0.9925 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81123343 | - | 10 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81120201 | - | 11 | -0.9921 | -0.9921 | -0.9921 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81122823 | - | 11 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81119936 | - | 12 | -0.9626 | -0.9626 | -0.9626 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81120083 | - | 12 | 0.9246 | 0.9246 | 0.9246 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81119380 | - | 13 | -0.9911 | -0.9911 | -0.9911 | 0.0000 | acceptor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81119580 | - | 13 | 0.9924 | 0.9924 | 0.9924 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81118442 | - | 14 | 0.9486 | 0.9486 | 0.9486 | 0.0000 | donor | a0002c0002t0001g0329 | HG01167.hp1 | HG01167.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81144773
|
c.56-10272A>G | Obesity-related traits0.04 | a0001a0002a0003a0004a0005others(18): Show | a0001c0001a0001c0004a0001c0011a0002c0002a0002c0032others(33): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016a0001c0004t0002a0001c0011t0001others(40): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0119others(135): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 others(149): Show |
Novel genetic loci identified for the pathophysiol others(52): Show |
815 Hispanic children from 263 families/ | AATK | AATK | rs7220048-G | - | MODIFIER | chr17 | T | C |
|
chr17:81113737
|
c.*4665C>G | Body mass index0.014 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Meta-analysis of genome-wide association studies f others(69): Show |
434,794 European ancestry female individuals/ | AATK, BAIAP2 | rs4076427-C | - | MODIFIER | chr17 | G | C | |
|
chr17:81118663
|
c.4085-221G>A | Height | a0002a0004a0006a0007a0010others(6): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(18): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(24): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(108): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(115): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
AATK | rs62073017-? | - | MODIFIER | chr17 | C | T | |
|
chr17:81116398
|
c.*2004G>A | Neuroticism5.633 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Meta-analysis of genome-wide association studies f others(81): Show |
449,484 European ancestry individuals/ | NR | BAIAP2, AATK | rs62073016-T | - | MODIFIER | chr17 | C | T |
|
chr17:81120022
|
c.3797T>Cp.Phe1266Ser | Appendicular lean mass0.022 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
The genetic architecture of appendicular lean mass others(63): Show |
450,243 European ancestry individuals/ | AATK | AATK | rs36000545-A | - | MODERATE | chr17 | A | G |
|
chr17:81120022
|
c.3797T>Cp.Phe1266Ser | Appendicular lean mass0.02 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
The genetic architecture of appendicular lean mass others(63): Show |
205,513 European ancestry men/ | AATK | AATK | rs36000545-A | - | MODERATE | chr17 | A | G |
|
chr17:81120022
|
c.3797T>Cp.Phe1266Ser | Appendicular lean mass0.02 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
The genetic architecture of appendicular lean mass others(63): Show |
244,730 European ancestry women/ | AATK | AATK | rs36000545-A | - | MODERATE | chr17 | A | G |
|
chr17:81116648
|
c.*1754G>T | Lifetime major depressive disorder (MTAG)others(12): Show | a0001a0002a0003a0004a0005others(27): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0066others(57): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0016others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(287): Show |
Phenotype integration improves power and preserves others(75): Show |
282,558 European ancestry individuals (MTAG effect others(81): Show |
AATK, BAIAP2 | rs6565535-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81116648
|
c.*1754G>T | Lifetime major depressive disorder (MTAG)others(11): Show | a0001a0002a0003a0004a0005others(27): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0066others(57): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0016others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(287): Show |
Phenotype integration improves power and preserves others(75): Show |
262,199 European ancestry individuals (MTAG effect others(106): Show |
AATK, BAIAP2 | rs6565535-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81138800
|
c.56-4301_56-4300dupTG | Adipsin levels0.256 | a0001a0002a0003a0004a0005others(28): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0060others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0009a0001c0001t0013others(84): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(323): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
Genome-wide analyses of multiple obesity-related c others(64): Show |
1,510 Sub-Saharan African ancestry men/724 African others(13): Show |
AATK | rs201442880-A | - | MODIFIER | chr17 | C | CCA | |
|
chr17:81121829
|
c.2107G>Tp.Gly703Cys | Age at first sexual intercourse0.0129437 | a0002a0003a0006a0008a0009others(18): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(42): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(51): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(183): Show | HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 others(194): Show |
Identification of 371 genetic variants for age at others(54): Show |
397,338 European ancestry individuals/ | AATK | AATK | rs7503604-C | - | MODERATE | chr17 | C | A |
|
chr17:81113737
|
c.*4665C>G | Height0.0154322 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
A Genomics England haplotype reference panel and i others(24): Show |
404,900 European ancestry individuals/ | AATK, BAIAP2 | rs4076427-? | - | MODIFIER | chr17 | G | C | |
|
chr17:81116398
|
c.*2004G>A | Fat-free mass0.16136 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Genomics of body fat percentage may contribute to others(29): Show |
70,700 European ancestry female individuals, 85,26 others(37): Show |
NR | BAIAP2, AATK | rs62073016-? | - | MODIFIER | chr17 | C | T |
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chr17:81116398
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c.*2004G>A | Fat-free mass0.14239 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Genomics of body fat percentage may contribute to others(29): Show |
70,700 European ancestry female individuals, 85,26 others(37): Show |
NR | BAIAP2, AATK | rs62073016-? | - | MODIFIER | chr17 | C | T |
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chr17:81116398
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c.*2004G>A | Fat-free mass0.14845 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Genomics of body fat percentage may contribute to others(29): Show |
70,700 European ancestry female individuals, 85,26 others(37): Show |
NR | BAIAP2, AATK | rs62073016-? | - | MODIFIER | chr17 | C | T |
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chr17:81120022
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c.3797T>Cp.Phe1266Ser | Whole body fat free mass (UKB data field 23101)others(16): Show | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
New role of fat-free mass in cancer risk linked wi others(26): Show |
337,739 European ancestry individuals/ | AATK | rs36000545-G | - | MODERATE | chr17 | A | G | |
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chr17:81113737
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c.*4665C>G | Body surface area0.00328812 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Body surface area is a potential obesity index: It others(66): Show |
337,198 British ancestry individuals/ | AATK, BAIAP2 | rs4076427-? | - | MODIFIER | chr17 | G | C | |
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chr17:81116398
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c.*2004G>A | Height0.0117 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
A cross-population atlas of genetic associations f others(24): Show |
360,388 European ancestry individuals, 165,056 Eas others(29): Show |
BAIAP2, AATK | rs62073016-T | - | MODIFIER | chr17 | C | T | |
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chr17:81113737
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c.*4665C>G | Weight0.0156 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
A cross-population atlas of genetic associations f others(24): Show |
360,116 European ancestry individuals, 165,419 Eas others(29): Show |
AATK, BAIAP2 | rs4076427-C | - | MODIFIER | chr17 | G | C | |
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chr17:81116398
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c.*2004G>A |
Weight (maximum, inv-normal transformed) others(7): Show |
a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
119,284 African American or Afro-Caribbean individ others(130): Show |
BAIAP2, AATK | rs62073016-C | - | MODIFIER | chr17 | C | T | |
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chr17:81120022
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c.3797T>Cp.Phe1266Ser |
Impedance of arm left (UKB data field 23110)< others(16): Show |
a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | AATK | rs36000545-G | - | MODERATE | chr17 | A | G |