| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44298837
|
C | A | 0.0505 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(17): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0001t0023a0001c0011t0005 | a0001c0001t0005g0004a0001c0001t0023g0083a0001c0011t0005g0036 | 20 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*1710G>T | 1710 | |||||
|
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 | |||||
|
chr6:44298971
|
T | C | 0.0884 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0005 | a0001c0001t0005a0001c0001t0006a0001c0001t0023others(2): Show | a0001c0001t0005g0004a0001c0001t0006g0009a0001c0001t0006g0034others(3): Show | 35 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*1576A>G | 1576 | |||||
|
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 |
| 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 | 0/0 | t0005 | 1861 | 19 | 1 | 11 | 2 | 3 | 2 | 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 |
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 | 0/0 | a0001c0001t0005 | 17 | 1 | 11 | 2 | 3 | 0 | 4818 | copy fasta | 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 | -0.8827 | -0.8671 | -0.8495 | 0.0333 | acceptor | a0001c0001t0005 | HG00140.hp1 NA20805.hp1 |
HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01257.hp2 HG01516.hp1 others(2): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44312072 | - | 2 | -0.9936 | -0.9935 | -0.9934 | 0.0001 | acceptor | a0001c0001t0005 | HG01934.hp2 | HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01257.hp2 HG01516.hp1 others(2): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44312263 | - | 2 | 0.9917 | 0.9916 | 0.9913 | 0.0004 | donor | a0001c0001t0005 | HG00140.hp1 NA20805.hp1 |
HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02293.hp2 NA20300.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311390 | - | 3 | -0.9982 | -0.9981 | -0.9982 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311535 | - | 3 | 0.9946 | 0.9945 | 0.9945 | 0.0001 | donor | a0001c0001t0005 | HG01934.hp2 | HG00140.hp1 NA20805.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310994 | - | 4 | -0.9917 | -0.9916 | -0.9916 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG01934.hp2 NA20805.hp1 |
HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 HG01106.hp2 others(9): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311161 | - | 4 | 0.9917 | 0.9917 | 0.9916 | 0.0001 | donor | a0001c0001t0005 | HG00639.hp2 HG00642.hp2 |
HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02293.hp2 NA20300.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310299 | - | 5 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310443 | - | 5 | 0.9132 | 0.9132 | 0.9132 | 0.0000 | donor | a0001c0001t0005 | HG00639.hp2 HG00642.hp2 |
HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01257.hp2 HG01516.hp1 others(2): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307249 | - | 6 | -0.8572 | -0.8572 | -0.8572 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307394 | - | 6 | 0.9407 | 0.9407 | 0.9407 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306923 | - | 7 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307031 | - | 7 | 0.9828 | 0.9828 | 0.9828 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306494 | - | 8 | -0.9185 | -0.9185 | -0.9185 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306532 | - | 8 | 0.9607 | 0.9607 | 0.9607 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306280 | - | 9 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306391 | - | 9 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305653 | - | 10 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305786 | - | 10 | 0.9983 | 0.9982 | 0.9983 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305054 | - | 11 | -0.9651 | -0.9651 | -0.9651 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305198 | - | 11 | 0.9894 | 0.9894 | 0.9894 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304645 | - | 12 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304817 | - | 12 | 0.9965 | 0.9965 | 0.9965 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304420 | - | 13 | -0.9908 | -0.9908 | -0.9908 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304533 | - | 13 | 0.9929 | 0.9929 | 0.9929 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304181 | - | 14 | -0.9002 | -0.9002 | -0.9002 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304321 | - | 14 | 0.5773 | 0.5773 | 0.5773 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303286 | - | 15 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303423 | - | 15 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303066 | - | 16 | -0.9518 | -0.9518 | -0.9518 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303175 | - | 16 | 0.9421 | 0.9421 | 0.9421 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302802 | - | 17 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302910 | - | 17 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302391 | - | 18 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302513 | - | 18 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302060 | - | 19 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302170 | - | 19 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301381 | - | 20 | -0.9956 | -0.9956 | -0.9956 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301464 | - | 20 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301156 | - | 21 | -0.9404 | -0.9404 | -0.9404 | 0.0000 | acceptor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301266 | - | 21 | 0.9654 | 0.9654 | 0.9654 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
AARS2 | chr6 | 44293731 | 44318347 |
| 44300711 | - | 22 | 0.6500 | 0.6500 | 0.6500 | 0.0000 | donor | a0001c0001t0005 | HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp1 others(12): Show |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44317150
|
c.-3827G>A |
Tea intake (UKB data field 1488)0.043006 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | HG01257.hp2 |
Comprehensive genomic analysis of dietary habits i others(57): Show |
448,060 European ancestry individuals/ | AARS2 - SPATS1 | rs114356757-C | - | MODIFIER | chr6 | C | T |