| geneid | 57505 |
|---|---|
| ensemblid | ENSG00000124608.5 |
| hgncid | 21022 |
| symbol | AARS2 |
| name | alanyl-tRNA synthetase 2, mitochondrial |
| refseq_nuc | NM_020745.4 |
| refseq_prot | NP_065796.2 |
| ensembl_nuc | ENST00000244571.5 |
| ensembl_prot | ENSP00000244571.4 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 44298731 |
| end | 44313347 |
| strand | - |
| ver | v1.2 |
| region | chr6:44298731-44313347 |
| region5000 | chr6:44293731-44318347 |
| regionname0 | AARS2_chr6_44298731_44313347 |
| regionname5000 | AARS2_chr6_44293731_44318347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44307274
|
T | C | 0.9066 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0002a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 359 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 6/22 | c.1015A>G | p.Ile339Val | 1039/4798 | 1015/2958 | 339/985 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44300634
|
T | C | 0.8990 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(77): Show | 356 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.2871A>G | p.Ser957Ser | 2895/4798 | 2871/2958 | 957/985 | ||
|
chr6:44301456
|
C | T | 0.5025 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0001c0017others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(40): Show | 199 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 20/22 | c.2607G>A | p.Lys869Lys | 2631/4798 | 2607/2958 | 869/985 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44298911
|
C | CTT | 0.9015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 2 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*1635_*1636insAA | 1635 | |||||
|
chr6:44299188
|
T | C | 0.9015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*1359A>G | 1359 | |||||
|
chr6:44299262
|
CT | C | 0.8914 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(77): Show | 353 | 396 | -1 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*1284delA | 1284 | |||||
|
chr6:44299913
|
T | TAGGGCAC others(7): Show |
0.9823 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(91): Show | 389 | 396 | 14 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*633_*634insGGTATGGGTGCCCT | 633 | |||||
|
chr6:44299991
|
A | ATTTAT | 0.9040 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 358 | 396 | 5 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*555_*556insATAAA | 555 | |||||
|
chr6:44300124
|
C | T | 0.9015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*423G>A | 423 | |||||
|
chr6:44300181
|
A | G | 0.9015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*366T>C | 366 | |||||
|
chr6:44300206
|
C | T | 0.9015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*341G>A | 341 | |||||
|
chr6:44300398
|
C | T | 0.9040 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 358 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*149G>A | 149 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44300767
|
C | G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 396 | 0.0025 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | c.2794-56G>C | ||||||
|
chr6:44301069
|
T | TTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0.9015 | 4 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/21 | c.2793+86_2793+87insGACA | ||||||
|
chr6:44301286
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0.9015 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 20/21 | c.2683-20A>G | ||||||
|
chr6:44301903
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 358 | 396 | 0.9040 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | c.2598+157C>T | ||||||
|
chr6:44301943
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 354 | 396 | 0.8939 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | c.2598+117G>C | ||||||
|
chr6:44302628
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(144): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0017a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(28): Show | 147 | 396 | 0.3712 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | c.2365-115G>C | ||||||
|
chr6:44303031
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 200 | 396 | 0.5051 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 16/21 | c.2255+35C>A | ||||||
|
chr6:44303199
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(29): Show | 149 | 396 | 0.3763 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 15/21 | c.2146-24G>A | ||||||
|
chr6:44303924
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(39): Show | 191 | 396 | 0.4823 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 14/21 | c.2007+257C>T | ||||||
|
chr6:44305809
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(152): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(32): Show | 155 | 396 | 0.3914 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 9/21 | c.1301-23T>G | ||||||
|
chr6:44306714
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(80): Show | 360 | 396 | 0.9091 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 7/21 | c.1150-182C>T | ||||||
|
chr6:44307060
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(80): Show | 360 | 396 | 0.9091 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 6/21 | c.1041-29A>G | ||||||
|
chr6:44313075
|
C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0017others(9): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0020others(33): Show | 149 | 396 | 0.3763 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | c.243+6G>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/1 | a0001 | 985 | 331 | 44 | 63 | 178 | 13 | 32 | subcellular location copy fasta | chr6 | 44293731 | 44318347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/1 | c0001 | 2958 | 181 | 32 | 45 | 68 | 13 | 22 | copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/1 | t0001 | 1861 | 163 | 34 | 33 | 68 | 13 | 14 | copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | g0055 | 1 | 0 | 1 | 0 | 0 | 0 | chr6 | 44293731 | 44318347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/1 | a0001c0001 | 181 | 32 | 45 | 68 | 13 | 22 | 2958 | copy fasta | chr6 | 44293731 | 44318347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/1 | a0001c0001t0001 | 148 | 28 | 30 | 65 | 10 | 14 | 4818 | copy fasta | chr6 | 44293731 | 44318347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | a0001c0001t0001g0055 | 1 | 0 | 1 | 0 | 0 | 0 | chr6 | 44293731 | 44318347 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 44313081 | - | 1 | -0.9018 | -0.9018 | -0.9018 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44312072 | - | 2 | -0.9940 | -0.9940 | -0.9940 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44312263 | - | 2 | 0.9922 | 0.9922 | 0.9922 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44311390 | - | 3 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44311535 | - | 3 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44310994 | - | 4 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44311161 | - | 4 | 0.9902 | 0.9901 | 0.9902 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44310299 | - | 5 | -0.9956 | -0.9956 | -0.9956 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44310443 | - | 5 | 0.9124 | 0.9123 | 0.9124 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44307249 | - | 6 | -0.8556 | -0.8556 | -0.8556 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44307394 | - | 6 | 0.9392 | 0.9392 | 0.9392 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44306923 | - | 7 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44307031 | - | 7 | 0.9830 | 0.9830 | 0.9830 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44306494 | - | 8 | -0.9193 | -0.9193 | -0.9193 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44306532 | - | 8 | 0.9608 | 0.9608 | 0.9608 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44306280 | - | 9 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44306391 | - | 9 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44305653 | - | 10 | -0.9981 | -0.9980 | -0.9981 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44305786 | - | 10 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44305054 | - | 11 | -0.9654 | -0.9654 | -0.9654 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44305198 | - | 11 | 0.9895 | 0.9895 | 0.9895 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44304645 | - | 12 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44304817 | - | 12 | 0.9965 | 0.9965 | 0.9965 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44304420 | - | 13 | -0.9907 | -0.9907 | -0.9907 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44304533 | - | 13 | 0.9929 | 0.9929 | 0.9929 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44304181 | - | 14 | -0.9004 | -0.9004 | -0.9004 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44304321 | - | 14 | 0.5772 | 0.5772 | 0.5772 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44303286 | - | 15 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44303423 | - | 15 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44303066 | - | 16 | -0.9514 | -0.9514 | -0.9514 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44303175 | - | 16 | 0.9495 | 0.9495 | 0.9495 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44302802 | - | 17 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44302910 | - | 17 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44302391 | - | 18 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44302513 | - | 18 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44302060 | - | 19 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44302170 | - | 19 | 0.9951 | 0.9950 | 0.9951 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301381 | - | 20 | -0.9956 | -0.9956 | -0.9956 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301464 | - | 20 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301156 | - | 21 | -0.9383 | -0.9383 | -0.9383 | 0.0000 | acceptor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301266 | - | 21 | 0.9652 | 0.9652 | 0.9652 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 44300711 | - | 22 | 0.6471 | 0.6471 | 0.6471 | 0.0000 | donor | a0001c0001t0001g0055 | HG01175.hp2 | HG01175.hp2 | AARS2 | chr6 | 44293731 | 44318347 |
| 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 |
|---|