| geneid | 80755 |
|---|---|
| ensemblid | ENSG00000266967.7 |
| hgncid | 28417 |
| symbol | AARSD1 |
| name | alanyl-tRNA synthetase domain containing 1 |
| refseq_nuc | NM_001261434.2 |
| refseq_prot | NP_001248363.1 |
| ensembl_nuc | ENST00000427569.7 |
| ensembl_prot | ENSP00000400870.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 42950526 |
| end | 42964454 |
| strand | - |
| ver | v1.2 |
| region | chr17:42950526-42964454 |
| region5000 | chr17:42945526-42969454 |
| regionname0 | AARSD1_chr17_42950526_42964454 |
| regionname5000 | AARSD1_chr17_42945526_42969454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:42964217
|
G | A | 0.8982 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/12 | c.60C>T | p.Ser20Ser | 74/1320 | 60/1239 | 20/412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:42951921
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(143): Show | 314 | 324 | 0.9691 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | c.1009-27A>G | ||||||
|
chr17:42952466
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 307 | 324 | 0.9475 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | c.1009-572G>A | ||||||
|
chr17:42952733
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | c.1009-839G>T | ||||||
|
chr17:42954124
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(76): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(36): Show | 79 | 324 | 0.2438 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | c.954-346A>G | ||||||
|
chr17:42954248
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(262): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(120): Show | 265 | 324 | 0.8179 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | c.954-470G>A | ||||||
|
chr17:42954276
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | c.954-498C>T | ||||||
|
chr17:42954432
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(80): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(40): Show | 83 | 324 | 0.2562 | 1 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | c.953+443dupA | ||||||
|
chr17:42955688
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 307 | 324 | 0.9475 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 7/11 | c.794+154T>C | ||||||
|
chr17:42955720
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 7/11 | c.794+122A>G | ||||||
|
chr17:42956045
|
G | A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 324 | 0.0031 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 6/11 | c.664-73C>T | ||||||
|
chr17:42956660
|
C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(191): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(78): Show | 194 | 324 | 0.5988 | 4 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | c.390-104_390-101dupAAAA | ||||||
|
chr17:42956944
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | c.389+194T>C | ||||||
|
chr17:42956956
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 307 | 324 | 0.9475 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | c.389+182A>G | ||||||
|
chr17:42956966
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(124): Show | 289 | 324 | 0.8920 | 1 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | c.389+171dupA | ||||||
|
chr17:42957476
|
CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0015others(26): Show | 56 | 324 | 0.1728 | -1 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.332-282delA | ||||||
|
chr17:42957668
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.332-473T>G | ||||||
|
chr17:42958703
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(129): Show | 290 | 324 | 0.8951 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.332-1508A>G | ||||||
|
chr17:42958832
|
GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(151): Show | 323 | 324 | 0.9969 | -1 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.332-1638delG | ||||||
|
chr17:42958921
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.332-1726T>C | ||||||
|
chr17:42959183
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.332-1988G>A | ||||||
|
chr17:42959196
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(57): Show | 118 | 324 | 0.3642 | 1 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.331+1995dupT | ||||||
|
chr17:42959530
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.331+1662G>A | ||||||
|
chr17:42960006
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(73): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(33): Show | 76 | 324 | 0.2346 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | c.331+1186G>T | ||||||
|
chr17:42961526
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/11 | c.172-175G>C | ||||||
|
chr17:42962298
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(144): Show | 316 | 324 | 0.9753 | -1 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/11 | c.172-948delT | ||||||
|
chr17:42963225
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 307 | 324 | 0.9475 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/11 | c.171+881C>G | ||||||
|
chr17:42963253
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/11 | c.171+853T>C | ||||||
|
chr17:42963623
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/11 | c.171+483G>A | ||||||
|
chr17:42963629
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/11 | c.171+477T>G | ||||||
|
chr17:42964274
|
CAGCCCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(151): Show | 323 | 324 | 0.9969 | -6 | AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1/11 | c.40-43_40-38delAGGGCT |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 1/1 | a0001 | 412 | 312 | 85 | 57 | 115 | 12 | 41 | subcellular location copy fasta | chr17 | 42945526 | 42969454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 0/1 | c0001 | 1239 | 278 | 57 | 53 | 114 | 12 | 41 | copy fasta | chr17 | 42945526 | 42969454 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 1/1 | t0001 | 82 | 324 | 88 | 58 | 122 | 12 | 42 | copy fasta | chr17 | 42945526 | 42969454 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 0/0 | g0136 | 1 | 0 | 0 | 1 | 0 | 0 | chr17 | 42945526 | 42969454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 0/1 | a0001c0001 | 278 | 57 | 53 | 114 | 12 | 41 | 1239 | copy fasta | chr17 | 42945526 | 42969454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 0/1 | a0001c0001t0001 | 278 | 57 | 53 | 114 | 12 | 41 | 1320 | copy fasta | chr17 | 42945526 | 42969454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARSD1 | 0/0 | a0001c0001t0001g0136 | 1 | 0 | 0 | 1 | 0 | 0 | chr17 | 42945526 | 42969454 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 42964402 | - | 1 | -0.5991 | -0.5991 | -0.5991 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42964106 | - | 2 | -0.9876 | -0.9876 | -0.9876 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42964237 | - | 2 | 0.9804 | 0.9804 | 0.9804 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42961192 | - | 3 | -0.9935 | -0.9935 | -0.9935 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42961351 | - | 3 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42957138 | - | 4 | -0.9945 | -0.9945 | -0.9945 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42957195 | - | 4 | 0.9889 | 0.9889 | 0.9889 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42956404 | - | 5 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42956560 | - | 5 | 0.9740 | 0.9740 | 0.9740 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42956204 | - | 6 | -0.9864 | -0.9864 | -0.9864 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42956320 | - | 6 | 0.9935 | 0.9935 | 0.9935 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42955842 | - | 7 | -0.6662 | -0.6662 | -0.6662 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42955972 | - | 7 | 0.8329 | 0.8329 | 0.8329 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42955158 | - | 8 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42955224 | - | 8 | 0.9929 | 0.9929 | 0.9929 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42954876 | - | 9 | -0.9473 | -0.9473 | -0.9473 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42954967 | - | 9 | 0.9270 | 0.9270 | 0.9270 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42953724 | - | 10 | -0.8547 | -0.8547 | -0.8547 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42953778 | - | 10 | 0.7693 | 0.7693 | 0.7693 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42951800 | - | 11 | -0.9526 | -0.9526 | -0.9526 | 0.0000 | acceptor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42951894 | - | 11 | 0.9556 | 0.9556 | 0.9556 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 42950728 | - | 12 | 0.7077 | 0.7077 | 0.7077 | 0.0000 | donor | a0001c0001t0001g0136 | NA19090.hp1 | NA19090.hp1 | AARSD1 | chr17 | 42945526 | 42969454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 42969192:splice 42969192:variant goto | c.-4754_-4753delGC | 403353 | Benign | PTGES3L:100885848 PTGES3L-AARSD1:100885850 |
SO:0001627 intron_variant |
MedGen:CN169374 | - | 3 | 4 | 4 | 48 | a0001a0004a0008 | a0001c0001a0001c0002a0004c0005a0008c0007 | a0001c0001t0001a0001c0002t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(43): Show | HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 others(89): Show |
MODIFIER | chr17 | GGC | G | 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 |
|---|