| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44302438
|
C | T | 0.0076 | missense_variant | MODERATE | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | 3 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/22 | c.2440G>A | p.Val814Met | 2464/4798 | 2440/2958 | 814/985 | ||
|
chr6:44302452
|
A | T | 0.0076 | missense_variant | MODERATE | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | 3 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 18/22 | c.2426T>A | p.Leu809Gln | 2450/4798 | 2426/2958 | 809/985 | ||
|
chr6:44306384
|
T | C | 0.0051 | missense_variant | MODERATE | HG01891.hp1 HG03225.hp1 |
a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | 2 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 9/22 | c.1196A>G | p.Asn399Ser | 1220/4798 | 1196/2958 | 399/985 | ||
|
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44312087
|
C | T | 0.0101 | synonymous_variant | LOW | HG01891.hp1 HG01891.hp2 HG02922.hp1 others(1): Show |
a0002a0008a0011 | a0002c0012a0008c0009a0011c0013 | a0002c0012t0004a0008c0009t0012a0011c0013t0021 | a0002c0012t0004g0077a0008c0009t0012g0033a0011c0013t0021g0078 | 4 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/22 | c.420G>A | p.Gly140Gly | 444/4798 | 420/2958 | 140/985 |
| 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 | 0/0 | a0008 | 985 | 2 | 2 | 0 | 0 | 0 | 0 | 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 | 0/0 | c0009 | 2958 | 2 | 2 | 0 | 0 | 0 | 0 | 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 | 0/0 | a0008c0009 | 2 | 2 | 0 | 0 | 0 | 0 | 2958 | 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 | -0.8459 | -0.8459 | -0.8459 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44312072 | - | 2 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44312263 | - | 2 | 0.9953 | 0.9953 | 0.9953 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311390 | - | 3 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311535 | - | 3 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310994 | - | 4 | -0.9924 | -0.9924 | -0.9924 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311161 | - | 4 | 0.9920 | 0.9920 | 0.9920 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310299 | - | 5 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310443 | - | 5 | 0.9650 | 0.9650 | 0.9650 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307249 | - | 6 | -0.8550 | -0.8550 | -0.8550 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307394 | - | 6 | 0.9431 | 0.9431 | 0.9431 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306923 | - | 7 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307031 | - | 7 | 0.9812 | 0.9812 | 0.9812 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306494 | - | 8 | -0.9198 | -0.9198 | -0.9198 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306532 | - | 8 | 0.9614 | 0.9614 | 0.9614 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306280 | - | 9 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306391 | - | 9 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305653 | - | 10 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305786 | - | 10 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305054 | - | 11 | -0.9654 | -0.9654 | -0.9654 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305198 | - | 11 | 0.9900 | 0.9900 | 0.9900 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304645 | - | 12 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304817 | - | 12 | 0.9965 | 0.9965 | 0.9965 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304420 | - | 13 | -0.9859 | -0.9859 | -0.9859 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304533 | - | 13 | 0.9877 | 0.9877 | 0.9877 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304181 | - | 14 | -0.9062 | -0.9062 | -0.9062 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304321 | - | 14 | 0.5935 | 0.5935 | 0.5935 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303286 | - | 15 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303423 | - | 15 | 0.9995 | 0.9994 | 0.9995 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303066 | - | 16 | -0.9600 | -0.9600 | -0.9600 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303175 | - | 16 | 0.9526 | 0.9526 | 0.9526 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302802 | - | 17 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302910 | - | 17 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302391 | - | 18 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302513 | - | 18 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302060 | - | 19 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302170 | - | 19 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0008c0009 | HG01891.hp1 HG03225.hp1 |
HG01891.hp1 HG03225.hp1 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301381 | - | 20 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0008c0009 | HG01891.hp1 | HG03225.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301464 | - | 20 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0008c0009 | HG01891.hp1 | HG03225.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301156 | - | 21 | -0.9487 | -0.9481 | -0.9475 | 0.0013 | acceptor | a0008c0009 | HG01891.hp1 | HG03225.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44301266 | - | 21 | 0.9683 | 0.9683 | 0.9683 | 0.0000 | donor | a0008c0009 | HG03225.hp1 | HG01891.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44300711 | - | 22 | 0.6497 | 0.6477 | 0.6458 | 0.0038 | donor | a0008c0009 | HG03225.hp1 | HG01891.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 44306714:splice 44306714:variant goto | c.1150-182C>T | 682693 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 14 | 19 | 33 | 83 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0002a0001c0011a0001c0017a0001c0018others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0011a0001c0001t0014others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(78): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(355): Show |
MODIFIER | chr6 | G | A | TogoVar |
| 44307060:splice 44307060:variant goto | c.1041-29A>G | 1185351 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MONDO:MONDO:0014387 MedGen:C4014588 OMIM:615889 Orphanet:99853|MONDO:MONDO:0013570 MedGen:C4518839 others(2): Show |
- | 14 | 19 | 33 | 83 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0002a0001c0011a0001c0017a0001c0018others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0011a0001c0001t0014others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(78): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(355): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 44307274:splice 44307274:variant goto | c.1015A>Gp.Ile339Val | 1164206 | Benign | AARS2:57505 | SO:0001583 missense_variant |
MONDO:MONDO:0014387 MedGen:C4014588 OMIM:615889 Orphanet:99853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013570 MedGen:C4518839 others(2): Show |
- | 13 | 18 | 32 | 82 | a0001a0003a0004a0005a0006others(8): Show | a0001c0001a0001c0002a0001c0011a0001c0017a0001c0018others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0011a0001c0001t0014others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(77): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(354): Show |
MODERATE | chr6 | T | C | TogoVar |
| 44299913:splice 44299913:variant goto | c.*633_*634insGGTATGGGTGCCCT | 357043 | Benign | POLR1C:9533 AARS2:57505 |
SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0000732 MedGen:C4540031 OMIM:PS609060 |
- | 14 | 21 | 36 | 94 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0002a0001c0011a0001c0018a0001c0020others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0011a0001c0001t0014others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(89): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(384): Show |
MODIFIER | chr6 | T | TAGGGCAC others(7): Show |
TogoVar |
| 44299991:splice 44299991:variant goto | c.*555_*556insATAAA | 357044 | Benign | POLR1C:9533 AARS2:57505 |
SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0000732 MedGen:C4540031 OMIM:PS609060 |
- | 14 | 19 | 32 | 82 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0002a0001c0011a0001c0017a0001c0018others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0014a0001c0001t0016others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(77): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(353): Show |
MODIFIER | chr6 | A | ATTTAT | TogoVar |
| 44312544:splice 44312544:variant goto | c.244-281A>G | 669454 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 10 | 14 | 24 | 56 | a0001a0002a0003a0005a0006others(5): Show | a0001c0001a0001c0002a0001c0011a0001c0018a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0023a0001c0002t0002others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(51): Show | HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(226): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 44311374:splice 44311374:variant goto | c.581+16T>C | 1168221 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 9 | 12 | 19 | 29 | a0001a0002a0003a0005a0006others(4): Show | a0001c0001a0001c0002a0001c0011a0001c0018a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0023a0001c0002t0002others(14): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0081others(24): Show | HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 others(115): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 44311572:splice 44311572:variant goto | c.436-37G>A | 1291327 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 9 | 12 | 19 | 29 | a0001a0002a0003a0005a0006others(4): Show | a0001c0001a0001c0002a0001c0011a0001c0018a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0023a0001c0002t0002others(14): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0081others(24): Show | HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 others(115): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 44311565:splice 44311565:variant goto | c.436-31_436-30insT | 671529 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 3 | 5 | 6 | 6 | a0001a0008a0011 | a0001c0001a0001c0002a0001c0011a0008c0009a0011c0013 | a0001c0001t0005a0001c0001t0023a0001c0002t0002a0001c0011t0005a0008c0009t0012others(1): Show | a0001c0001t0005g0004a0001c0001t0023g0083a0001c0002t0002g0035a0001c0011t0005g0036a0008c0009t0012g0033others(1): Show | HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 others(20): Show |
MODIFIER | chr6 | G | GA | TogoVar |
| 44312087:splice 44312087:variant goto | c.420G>Ap.Gly140Gly | 136222 | Benign | AARS2:57505 | SO:0001819 synonymous_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:CN169374|MedGen:C3661900 |
- | 3 | 3 | 3 | 3 | a0002a0008a0011 | a0002c0012a0008c0009a0011c0013 | a0002c0012t0004a0008c0009t0012a0011c0013t0021 | a0002c0012t0004g0077a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG01891.hp2 HG02922.hp1 HG03225.hp1 |
LOW | chr6 | C | T | TogoVar |
| 44298828:splice 44298828:variant goto | c.*1719T>C | 357023 | Benign | AARS2:57505 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504 |
- | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | A | G | TogoVar |
| 44300204:splice 44300204:variant goto | c.*343G>A | 357049 | Benign | AARS2:57505 | SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504 |
- | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | C | T | TogoVar |
| 44300854:splice 44300854:variant goto | c.2794-143G>A | 677596 | Likely_benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | C | T | TogoVar |
| 44302044:splice 44302044:variant goto | c.2598+16G>T | 136219 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900|MedGen:CN169374 | - | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | C | A | TogoVar |
| 44303981:splice 44303981:variant goto | c.2007+200C>T | 673072 | Likely_benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 44304865:splice 44304865:variant goto | c.1580-48C>T | 677595 | Likely_benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 44306384:splice 44306384:variant goto | c.1196A>Gp.Asn399Ser | 136228 | Benign/Likely_benign | AARS2:57505 | SO:0001583 missense_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:CN169374|MedGen:C3661900 |
- | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODERATE | chr6 | T | C | TogoVar |
| 44307725:splice 44307725:variant goto | c.895-331T>G | 673071 | Likely_benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | A | C | TogoVar |
| 44310448:splice 44310448:variant goto | c.750-5G>A | 136224 | Conflicting_classifications_of_pathogenicity | AARS2:57505 | SO:0001627 intron_variant |
MedGen:CN169374|MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:C3661900 |
- | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
LOW | chr6 | C | T | TogoVar |
| 44310643:splice 44310643:variant goto | c.750-200A>G | 673070 | Likely_benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0033 | HG01891.hp1 HG03225.hp1 |
MODIFIER | chr6 | T | C | TogoVar |
| 44302438:splice 44302438:variant goto | c.2440G>Ap.Val814Met | 136217 | Benign | AARS2:57505 | SO:0001583 missense_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:CN169374|MedGen:C3661900 |
- | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODERATE | chr6 | C | T | TogoVar |
| 44302452:splice 44302452:variant goto | c.2426T>Ap.Leu809Gln | 136216 | Benign | AARS2:57505 | SO:0001583 missense_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:CN169374|MedGen:C3661900 |
- | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODERATE | chr6 | A | T | TogoVar |
| 44303720:splice 44303720:variant goto | c.2008-297C>T | 673074 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 44304136:splice 44304136:variant goto | c.2007+45A>T | 673699 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODIFIER | chr6 | T | A | TogoVar |
| 44304546:splice 44304546:variant goto | c.1753-13T>C | 136232 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:C3661900|MedGen:CN169374 |
- | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODIFIER | chr6 | A | G | TogoVar |
| 44306634:splice 44306634:variant goto | c.1150-102T>A | 673698 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODIFIER | chr6 | A | T | TogoVar |
| 44307054:splice 44307054:variant goto | c.1041-23G>C | 673697 | Benign | POLR1C:9533 AARS2:57505 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODIFIER | chr6 | C | G | TogoVar |
| 44311675:splice 44311675:variant goto | c.436-140A>G | 675491 | Benign | AARS2:57505 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
MODIFIER | chr6 | T | C | 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 |
|---|