| 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 |
|---|
| 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 | ||
|
chr16:70262421
|
G | T | 0.0028 | synonymous_variant | LOW | NA19057.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0086 | 1 | 362 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/21 | c.1596C>A | p.Thr532Thr | 1703/3437 | 1596/2907 | 532/968 | ||
|
chr16:70269677
|
G | A | 0.4448 | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(158): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(158): Show | 161 | 362 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/21 | c.903C>T | p.His301His | 1010/3437 | 903/2907 | 301/968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:70255194
|
A | AT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(97): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038others(97): Show | 100 | 362 | 0.2762 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | c.2287-461dupA | ||||||
|
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 | ||||||
|
chr16:70258895
|
CAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(86): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038others(86): Show | 89 | 362 | 0.2459 | -2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 14/20 | c.1992+83_1992+84delCT | ||||||
|
chr16:70261469
|
G | A | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0086 | 1 | 362 | 0.0028 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | c.1672-312C>T | ||||||
|
chr16:70261671
|
A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(171): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(170): Show | 174 | 362 | 0.4807 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | c.1672-515dupA | ||||||
|
chr16:70262967
|
CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp2 NA19055.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0142a0001c0002t0001g0302a0001c0013t0001g0086others(1): Show | 4 | 362 | 0.0111 | -10 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-453_1493-444delTTTTTTTTTT | ||||||
|
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 | ||||||
|
chr16:70268131
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(88): Show |
a0001a0010 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0001g0040others(88): Show | 91 | 362 | 0.2514 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 8/20 | c.1071+140C>A | ||||||
|
chr16:70269322
|
GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(148): Show | 151 | 362 | 0.4171 | -18 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | c.962+278_962+295delTTTTTTTTTTTTTTTTTT | ||||||
|
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 | ||||||
|
chr16:70272506
|
CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(104): Show | 107 | 362 | 0.2956 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-535delT | ||||||
|
chr16:70273863
|
C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(119): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(119): Show | 122 | 362 | 0.3370 | 2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.480-1893_480-1892dupTT | ||||||
|
chr16:70274921
|
A | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
a0001a0010 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0001g0040others(85): Show | 88 | 362 | 0.2431 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+1565T>G | ||||||
|
chr16:70275936
|
C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(123): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(123): Show | 126 | 362 | 0.3481 | 2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | c.479+548_479+549dupTT | ||||||
|
chr16:70279670
|
C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(131): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 134 | 362 | 0.3702 | 2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.145-2518_145-2517dupTT | ||||||
|
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 | ||||||
|
chr16:70282331
|
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 | ||||||
|
chr16:70287254
|
CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(60): Show |
a0001a0002a0010 | a0001c0001a0001c0007a0001c0013others(3): Show | a0001c0001t0001a0001c0007t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0064others(60): Show | 63 | 362 | 0.1740 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+2166delT | ||||||
|
chr16:70288098
|
CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(137): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(136): Show | 140 | 362 | 0.3867 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+1322delA | ||||||
|
chr16:70288565
|
CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(255): Show | 260 | 362 | 0.7182 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+855delA | ||||||
|
chr16:70289223
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(141): Show | 144 | 362 | 0.3978 | 0 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+198G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/1 | a0001 | 968 | 325 | 52 | 72 | 147 | 14 | 38 | 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 | c0013 | 2907 | 1 | 0 | 0 | 1 | 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 | g0086 | 1 | 0 | 0 | 1 | 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 | a0001c0013 | 1 | 0 | 0 | 1 | 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 | a0001c0013t0001 | 1 | 0 | 0 | 1 | 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 | a0001c0013t0001g0086 | 1 | 0 | 0 | 1 | 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 | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70282784 | - | 2 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276966 | - | 3 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70277154 | - | 3 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276486 | - | 4 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276631 | - | 4 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70271781 | - | 5 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70271972 | - | 5 | 0.9960 | 0.9960 | 0.9960 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70270196 | - | 6 | -0.9653 | -0.9653 | -0.9653 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70270340 | - | 6 | 0.8171 | 0.8171 | 0.8171 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70269618 | - | 7 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70269763 | - | 7 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70268271 | - | 8 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70268379 | - | 8 | 0.9935 | 0.9935 | 0.9935 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70267659 | - | 9 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70267809 | - | 9 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265538 | - | 10 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265662 | - | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70264958 | - | 11 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265102 | - | 11 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70262346 | - | 12 | -0.9880 | -0.9880 | -0.9880 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70262524 | - | 12 | 0.9810 | 0.9810 | 0.9810 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70261044 | - | 13 | -0.9943 | -0.9943 | -0.9943 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70261157 | - | 13 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258980 | - | 14 | -0.9851 | -0.9851 | -0.9851 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70259186 | - | 14 | 0.9895 | 0.9895 | 0.9895 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258033 | - | 15 | -0.8763 | -0.8763 | -0.8763 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258217 | - | 15 | 0.9168 | 0.9168 | 0.9168 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70255728 | - | 16 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70255836 | - | 16 | 0.9947 | 0.9947 | 0.9947 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254621 | - | 17 | -0.9965 | -0.9965 | -0.9965 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254734 | - | 17 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253919 | - | 18 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254038 | - | 18 | 0.9980 | 0.9980 | 0.9980 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253714 | - | 19 | -0.7653 | -0.7652 | -0.7653 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253800 | - | 19 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253268 | - | 20 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253381 | - | 20 | 0.9944 | 0.9944 | 0.9944 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 70252906 | - | 21 | 0.9924 | 0.9924 | 0.9924 | 0.0000 | donor | a0001c0013t0001g0086 | NA19057.hp2 | NA19057.hp2 | AARS1 | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70253274:splice 70253274:variant goto | c.2715T>Cp.Val905Val | 320325 | Benign | AARS1:16 | SO:0001819 synonymous_variant |
MONDO:MONDO:0018993 MedGen:C0270914 Orphanet:64746|MedGen:CN169374|MONDO:MONDO:0014593 MedGen:C4225361 OMIM:616339 others(4): Show |
- | 10 | 16 | 23 | 321 | a0001a0002a0003a0005a0006others(5): Show | a0001c0001a0001c0002a0001c0007a0001c0010a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(316): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(318): Show |
LOW | chr16 | A | G | TogoVar |
| 70258841:splice 70258841:variant goto | c.1992+139A>G | 1230605 | Benign | AARS1:16 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 10 | 16 | 23 | 321 | a0001a0002a0003a0005a0006others(5): Show | a0001c0001a0001c0002a0001c0007a0001c0010a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(316): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(318): Show |
MODIFIER | chr16 | T | C | TogoVar |
| 70269677:splice 70269677:variant goto | c.903C>Tp.His301His | 287973 | Benign | AARS1:16 | SO:0001819 synonymous_variant |
MONDO:MONDO:0013212 MedGen:C2750090 OMIM:613287 Orphanet:228174|MedGen:CN169374|MONDO:MONDO:0018993 MedGen:C0270914 others(1): Show |
- | 5 | 8 | 12 | 161 | a0001a0006a0007a0009a0010 | a0001c0001a0001c0007a0001c0013a0001c0016a0006c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(156): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(156): Show |
LOW | chr16 | G | A | TogoVar |
| 70289223:splice 70289223:variant goto | c.-22+198G>A | 1248821 | Benign | AARS1:16 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 5 | 8 | 10 | 144 | a0001a0006a0007a0009a0010 | a0001c0001a0001c0007a0001c0013a0001c0016a0006c0018others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007a0001c0007t0001a0001c0013t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(139): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(139): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 70282331:splice 70282331:variant goto | c.144+288dupT | 1241551 | Benign | AARS1:16 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 10 | 17 | 23 | 315 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(310): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(312): Show |
MODIFIER | chr16 | G | GA | TogoVar |
| 70258895:splice 70258895:variant goto | c.1992+83_1992+84delCT | 1250942 | Benign | AARS1:16 | SO:0001627 intron_variant |
MedGen:CN169374|MedGen:C3661900 | - | 2 | 6 | 7 | 89 | a0001a0010 | a0001c0001a0001c0002a0001c0007a0001c0013a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001a0001c0007t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0044others(84): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
MODIFIER | chr16 | CAG | C | TogoVar |
| 70268131:splice 70268131:variant goto | c.1071+140C>A | 1236014 | Benign | AARS1:16 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 5 | 6 | 91 | a0001a0010 | a0001c0001a0001c0007a0001c0013a0001c0016a0010c0014 | a0001c0001t0001a0001c0001t0007a0001c0007t0001a0001c0013t0001a0001c0016t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0045others(86): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 others(86): Show |
MODIFIER | chr16 | G | T | TogoVar |
| 70262421:splice 70262421:variant goto | c.1596C>Ap.Thr532Thr | 320339 | Conflicting_classifications_of_pathogenicity | AARS1:16 | SO:0001819 synonymous_variant |
MeSH:D030342 MedGen:C0950123|MONDO:MONDO:0013212 MedGen:C2750090 OMIM:613287 Orphanet:228174 |
- | 1 | 1 | 1 | 1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0086 | NA19057.hp2 | LOW | chr16 | G | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |
|
chr16:70269677
|
c.903C>Tp.His301His | Body mass index | a0001a0006a0007a0009a0010 | a0001c0001a0001c0007a0001c0013a0001c0016a0006c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(156): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 others(156): Show |
Shared Genetic and Experimental Links between Obes others(53): Show |
457,822 European ancestry individuals/ | NR | AARS1 | rs2070203-? | - | LOW | chr16 | G | 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 |
