| geneid | 16 |
|---|---|
| ensemblid | ENSG00000090861.17 |
| hgncid | 20 |
| symbol | AARS1 |
| name | alanyl-tRNA synthetase 1 |
| refseq_nuc | NM_001605.3 |
| refseq_prot | NP_001596.2 |
| ensembl_nuc | ENST00000261772.13 |
| ensembl_prot | ENSP00000261772.8 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 70252298 |
| end | 70289506 |
| strand | - |
| ver | v1.2 |
| region | chr16:70252298-70289506 |
| region5000 | chr16:70247298-70294506 |
| regionname0 | AARS1_chr16_70252298_70289506 |
| regionname5000 | AARS1_chr16_70247298_70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:70269756
|
C | T | 0.0691 | missense_variant | MODERATE | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/21 | c.824G>A | p.Gly275Asp | 931/3437 | 824/2907 | 275/968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:70253274
|
A | G | 0.8923 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(320): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 323 | 362 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 20/21 | c.2715T>C | p.Val905Val | 2822/3437 | 2715/2907 | 905/968 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:70253671
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 19/20 | c.2607+43T>C | ||||||
|
chr16:70254321
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 17/20 | c.2401-283T>C | ||||||
|
chr16:70254829
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(30): Show | 34 | 362 | 0.0939 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2287-95A>G | ||||||
|
chr16:70255135
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2287-401C>T | ||||||
|
chr16:70255160
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2287-426T>C | ||||||
|
chr16:70255217
|
G | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2287-483C>A | ||||||
|
chr16:70255236
|
G | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0350a0002c0004t0001g0351others(7): Show | 10 | 362 | 0.0276 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2286+492C>T | ||||||
|
chr16:70255254
|
C | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2286+474G>A | ||||||
|
chr16:70255348
|
C | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2286+380G>A | ||||||
|
chr16:70255526
|
CAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0350a0002c0004t0001g0351others(7): Show | 10 | 362 | 0.0276 | -2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2286+200_2286+201delAT | ||||||
|
chr16:70256792
|
C | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 15/20 | c.2178-956G>T | ||||||
|
chr16:70258841
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(320): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 323 | 362 | 0.8923 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 14/20 | c.1992+139A>G | ||||||
|
chr16:70259544
|
G | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0350a0002c0004t0001g0351others(7): Show | 10 | 362 | 0.0276 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | c.1786-358C>G | ||||||
|
chr16:70259778
|
G | GT | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG02015.hp1 others(40): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(40): Show | 43 | 362 | 0.1188 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | c.1786-593dupA | ||||||
|
chr16:70260023
|
C | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | c.1786-837G>A | ||||||
|
chr16:70260571
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(30): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(29): Show | 33 | 362 | 0.0912 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | c.1785+473A>G | ||||||
|
chr16:70260640
|
A | ACAACGT | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 6 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | c.1785+403_1785+404insACGTTG | ||||||
|
chr16:70261362
|
C | G | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | c.1672-205G>C | ||||||
|
chr16:70261597
|
C | CA | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG01433.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0025a0001c0001t0001g0039others(34): Show | 37 | 362 | 0.1022 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | c.1672-441dupT | ||||||
|
chr16:70261671
|
A | ATTT | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(20): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(20): Show | 23 | 362 | 0.0635 | 3 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | c.1672-517_1672-515dupAAA | ||||||
|
chr16:70262711
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-187T>C | ||||||
|
chr16:70262752
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(30): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(29): Show | 33 | 362 | 0.0912 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-228C>T | ||||||
|
chr16:70262967
|
CAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02647.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0348a0002c0004t0001g0349a0002c0004t0001g0350others(4): Show | 7 | 362 | 0.0193 | -4 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-447_1493-444delTTTT | ||||||
|
chr16:70262995
|
A | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-471T>G | ||||||
|
chr16:70262996
|
A | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp2 others(25): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0003a0002c0004t0001a0005c0009t0001 | a0001c0002t0003g0322a0001c0002t0003g0323a0001c0002t0003g0324others(25): Show | 28 | 362 | 0.0774 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-472T>G | ||||||
|
chr16:70263665
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(235): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(234): Show | 238 | 362 | 0.6575 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-1141G>A | ||||||
|
chr16:70264102
|
C | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1492+856G>A | ||||||
|
chr16:70264654
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1492+304T>C | ||||||
|
chr16:70264759
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1492+199T>C | ||||||
|
chr16:70265498
|
G | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 10/20 | c.1347+40C>G | ||||||
|
chr16:70265517
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 10/20 | c.1347+21A>G | ||||||
|
chr16:70266576
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 9/20 | c.1223-914A>G | ||||||
|
chr16:70266578
|
C | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 9/20 | c.1223-916G>C | ||||||
|
chr16:70267240
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 9/20 | c.1222+419C>T | ||||||
|
chr16:70268430
|
T | G | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | c.963-51A>C | ||||||
|
chr16:70268973
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | c.963-594C>T | ||||||
|
chr16:70269322
|
G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 HG03195.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0339a0002c0004t0001g0349a0002c0004t0001g0351 | 3 | 362 | 0.0083 | 13 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | c.962+283_962+295dupTTTTTTTTTTTTT | ||||||
|
chr16:70269915
|
TAG | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | -2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 6/20 | c.817-154_817-153delCT | ||||||
|
chr16:70270868
|
A | ACTGGGC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(195): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(194): Show | 198 | 362 | 0.5470 | 6 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.672-534_672-529dupGCCCAG | ||||||
|
chr16:70270917
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.672-577C>T | ||||||
|
chr16:70271192
|
A | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.671+589T>G | ||||||
|
chr16:70271214
|
C | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.671+567G>T | ||||||
|
chr16:70271304
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.671+477C>T | ||||||
|
chr16:70271536
|
C | CA | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0040a0001c0001t0001g0084a0001c0001t0001g0085others(6): Show | 9 | 362 | 0.0249 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.671+244dupT | ||||||
|
chr16:70271601
|
C | G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.671+180G>C | ||||||
|
chr16:70271778
|
T | C | splice_region_variant others(1): Show |
LOW | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | c.671+3A>G | ||||||
|
chr16:70272506
|
CAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG02055.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0001 | a0001c0001t0001g0076a0001c0002t0003g0322a0002c0004t0001g0348others(3): Show | 6 | 362 | 0.0166 | -3 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-537_480-535delTTT | ||||||
|
chr16:70272778
|
T | TG | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG02109.hp2 others(23): Show |
a0001a0002a0005 | a0001c0003a0002c0004a0005c0009 | a0001c0003t0001a0002c0004t0001a0005c0009t0001 | a0001c0003t0001g0181a0002c0004t0001g0335a0002c0004t0001g0337others(23): Show | 26 | 362 | 0.0718 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-807dupC | ||||||
|
chr16:70272889
|
G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02055.hp2 HG02896.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0027others(10): Show | 13 | 362 | 0.0359 | 18 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-935_480-918dupGTGTGTGTGTGTGTGTGT | ||||||
|
chr16:70273850
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-1878C>T | ||||||
|
chr16:70273863
|
C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01081.hp1 others(36): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0062a0001c0001t0001g0069others(36): Show | 39 | 362 | 0.1077 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-1892dupT | ||||||
|
chr16:70273947
|
C | T | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02559.hp2 others(10): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347a0002c0004t0001g0348a0002c0004t0001g0349others(10): Show | 13 | 362 | 0.0359 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-1975G>A | ||||||
|
chr16:70273955
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-1983A>G | ||||||
|
chr16:70274349
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(20): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(20): Show | 23 | 362 | 0.0635 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+2137C>T | ||||||
|
chr16:70274475
|
C | T | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0350a0002c0004t0001g0351others(7): Show | 10 | 362 | 0.0276 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+2011G>A | ||||||
|
chr16:70275129
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02559.hp2 others(10): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347a0002c0004t0001g0348a0002c0004t0001g0349others(10): Show | 13 | 362 | 0.0359 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+1357C>T | ||||||
|
chr16:70275250
|
ACT | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | -2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+1234_479+1235delAG | ||||||
|
chr16:70275382
|
A | G | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(32): Show | 36 | 362 | 0.0995 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+1104T>C | ||||||
|
chr16:70275383
|
C | A | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(32): Show | 36 | 362 | 0.0995 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+1103G>T | ||||||
|
chr16:70275458
|
T | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00639.hp2 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(102): Show | 106 | 362 | 0.2928 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+1028A>T | ||||||
|
chr16:70275936
|
C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp2 HG02922.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0351a0002c0004t0001g0356a0002c0004t0001g0358 | 3 | 362 | 0.0083 | 12 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+538_479+549dupTTTTTTTTTTTT | ||||||
|
chr16:70276122
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02559.hp2 others(10): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347a0002c0004t0001g0348a0002c0004t0001g0349others(10): Show | 13 | 362 | 0.0359 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+364C>T | ||||||
|
chr16:70276159
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+327C>T | ||||||
|
chr16:70277805
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.145-651A>G | ||||||
|
chr16:70278446
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.145-1292A>G | ||||||
|
chr16:70279325
|
G | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.145-2171C>A | ||||||
|
chr16:70279350
|
C | CA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG00738.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0061a0001c0001t0001g0065others(42): Show | 45 | 362 | 0.1243 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.145-2197dupT | ||||||
|
chr16:70280353
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+2267A>G | ||||||
|
chr16:70280781
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+1839A>G | ||||||
|
chr16:70281529
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+1091C>T | ||||||
|
chr16:70282008
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(194): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(193): Show | 197 | 362 | 0.5442 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+612A>G | ||||||
|
chr16:70282044
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(30): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(29): Show | 33 | 362 | 0.0912 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+576A>G | ||||||
|
chr16:70282158
|
A | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+462T>A | ||||||
|
chr16:70282165
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+455C>T | ||||||
|
chr16:70282246
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02559.hp2 others(8): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0348a0002c0004t0001g0349a0002c0004t0001g0350others(8): Show | 11 | 362 | 0.0304 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+374C>T | ||||||
|
chr16:70282316
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+304C>T | ||||||
|
chr16:70282331
|
G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(314): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(312): Show | 317 | 362 | 0.8757 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+288dupT | ||||||
|
chr16:70283323
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02559.hp2 others(10): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347a0002c0004t0001g0348a0002c0004t0001g0349others(10): Show | 13 | 362 | 0.0359 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-539C>T | ||||||
|
chr16:70283391
|
G | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02896.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0351a0002c0004t0001g0352others(3): Show | 6 | 362 | 0.0166 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-607C>T | ||||||
|
chr16:70283567
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-783A>G | ||||||
|
chr16:70283901
|
A | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-1117T>G | ||||||
|
chr16:70284892
|
G | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-2108C>A | ||||||
|
chr16:70285134
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-2350A>G | ||||||
|
chr16:70285227
|
T | TA | intron_variant | MODIFIER | HG01433.hp2 HG02015.hp2 HG02040.hp2 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0109a0001c0001t0001g0113others(29): Show | 32 | 362 | 0.0884 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-2444dupT | ||||||
|
chr16:70285581
|
C | T | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(33): Show | 37 | 362 | 0.1022 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-2797G>A | ||||||
|
chr16:70285918
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-3134A>G | ||||||
|
chr16:70286091
|
T | C | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-21-3307A>G | ||||||
|
chr16:70286362
|
A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp2 others(47): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0040others(46): Show | 50 | 362 | 0.1381 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+3058dupA | ||||||
|
chr16:70286565
|
G | C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp1 others(30): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(29): Show | 33 | 362 | 0.0912 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+2856C>G | ||||||
|
chr16:70287254
|
CAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(12): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0003a0002c0004t0001a0005c0009t0001 | a0001c0002t0003g0322a0002c0004t0001g0335a0002c0004t0001g0337others(12): Show | 15 | 362 | 0.0414 | -2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+2165_-22+2166delTT | ||||||
|
chr16:70287367
|
GCAGCGAG others(2): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | -9 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+2045_-22+2053delGGCTCGCTG | ||||||
|
chr16:70287727
|
G | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0349a0002c0004t0001g0350a0002c0004t0001g0351others(7): Show | 10 | 362 | 0.0276 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+1694C>T | ||||||
|
chr16:70288091
|
CCTT | C | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02896.hp2 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0350a0002c0004t0001g0351a0002c0004t0001g0352others(6): Show | 9 | 362 | 0.0249 | -3 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+1327_-22+1329delAAG | ||||||
|
chr16:70288369
|
C | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+1052G>T | ||||||
|
chr16:70289377
|
C | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+44G>T | ||||||
|
chr16:70289391
|
G | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+30C>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | a0002 | 968 | 24 | 23 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | c0004 | 2907 | 24 | 23 | 1 | 0 | 0 | 0 | copy fasta | chr16 | 70247298 | 70294506 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/1 | t0001 | 531 | 340 | 71 | 68 | 147 | 13 | 39 | copy fasta | chr16 | 70247298 | 70294506 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | g0351 | 1 | 1 | 0 | 0 | 0 | 0 | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | a0002c0004 | 24 | 23 | 1 | 0 | 0 | 0 | 2907 | copy fasta | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | a0002c0004t0001 | 24 | 23 | 1 | 0 | 0 | 0 | 3437 | copy fasta | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | a0002c0004t0001g0351 | 1 | 1 | 0 | 0 | 0 | 0 | chr16 | 70247298 | 70294506 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70282620 | - | 2 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70282784 | - | 2 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276966 | - | 3 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70277154 | - | 3 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276486 | - | 4 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276631 | - | 4 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70271781 | - | 5 | -0.9911 | -0.9911 | -0.9911 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70271972 | - | 5 | 0.9923 | 0.9923 | 0.9923 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70270196 | - | 6 | -0.9631 | -0.9631 | -0.9631 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70270340 | - | 6 | 0.8046 | 0.8046 | 0.8046 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70269618 | - | 7 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70269763 | - | 7 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70268271 | - | 8 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70268379 | - | 8 | 0.9913 | 0.9913 | 0.9913 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70267659 | - | 9 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70267809 | - | 9 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265538 | - | 10 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265662 | - | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70264958 | - | 11 | -0.9971 | -0.9970 | -0.9971 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265102 | - | 11 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70262346 | - | 12 | -0.9898 | -0.9898 | -0.9898 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70262524 | - | 12 | 0.9832 | 0.9832 | 0.9832 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70261044 | - | 13 | -0.9949 | -0.9949 | -0.9949 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70261157 | - | 13 | 0.9956 | 0.9956 | 0.9956 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258980 | - | 14 | -0.9877 | -0.9877 | -0.9877 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70259186 | - | 14 | 0.9868 | 0.9868 | 0.9868 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258033 | - | 15 | -0.8804 | -0.8804 | -0.8804 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258217 | - | 15 | 0.9037 | 0.9037 | 0.9037 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70255728 | - | 16 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70255836 | - | 16 | 0.9947 | 0.9947 | 0.9947 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254621 | - | 17 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254734 | - | 17 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253919 | - | 18 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254038 | - | 18 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253714 | - | 19 | -0.7785 | -0.7785 | -0.7785 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253800 | - | 19 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253268 | - | 20 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253381 | - | 20 | 0.9944 | 0.9944 | 0.9944 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70252906 | - | 21 | 0.9924 | 0.9924 | 0.9924 | 0.0000 | donor | a0002c0004t0001g0351 | HG02896.hp2 | HG02896.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:70282008
|
c.144+612A>G | Body mass index (MTAG)0.01848 | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(191): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
Pleiotropic genetic architecture and novel loci fo others(28): Show |
694,649 European ancestry individuals/ | AARS1 | rs775208-T | - | MODIFIER | chr16 | T | C | |
|
chr16:70251998
|
c.*723T>C | Body mass index0.016 | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(192): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(193): Show |
Genomics and phenomics of body mass index reveals others(26): Show |
1,122,049 European ancestry individuals/ | AARS1 | rs4985407-G | - | MODIFIER | chr16 | A | G | |
|
chr16:70292952
|
c.-3553A>T |
Alanine--tRNA ligase, cytoplasmic level in Chronic kidney disease with hypertension and no diabetes others(73): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0004a0002c0004t0001a0005c0009t0001 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0001g0296a0001c0002t0003g0322a0001c0002t0003g0323others(28): Show | HG01433.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 others(29): Show |
Identification of 969 protein quantitative trait l others(85): Show |
466 African American individuals/ | DDX19B | rs11859191-A | - | MODIFIER | chr16 | T | A | |
|
chr16:70282008
|
c.144+612A>G | Body mass index0.0171458 | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(191): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
Genetic evidence that high BMI in childhood has a others(146): Show |
441,761 European ancestry individuals/ | AARS1 | rs775208-T | - | MODIFIER | chr16 | T | C | |
|
chr16:70282008
|
c.144+612A>G | Body mass index0.016308 | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(191): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
New role of fat-free mass in cancer risk linked wi others(26): Show |
342,566 European ancestry individuals/ | AARS1 | rs775208-C | - | MODIFIER | chr16 | T | C | |
|
chr16:70282008
|
c.144+612A>G | Body mass index or knee osteoarthritis (pleiotropy)others(11): Show | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(191): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
A sex- and site-specific relationship between body others(81): Show |
806,834 European ancestry BMI individuals, 62,497 others(80): Show |
AARS1 | rs775208-T | - | MODIFIER | chr16 | T | C | |
|
chr16:70282008
|
c.144+612A>G | Weight0.0104 | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(191): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
A cross-population atlas of genetic associations f others(24): Show |
360,116 European ancestry individuals, 165,419 Eas others(29): Show |
AARS1 | rs775208-C | - | MODIFIER | chr16 | T | C |