| geneid | 84680 |
|---|---|
| ensemblid | ENSG00000110455.14 |
| hgncid | 23989 |
| symbol | ACCS |
| name | 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) |
| refseq_nuc | NM_032592.4 |
| refseq_prot | NP_115981.1 |
| ensembl_nuc | ENST00000263776.9 |
| ensembl_prot | ENSP00000263776.8 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 44066270 |
| end | 44084237 |
| strand | + |
| ver | v1.2 |
| region | chr11:44066270-44084237 |
| region5000 | chr11:44061270-44089237 |
| regionname0 | ACCS_chr11_44066270_44084237 |
| regionname5000 | ACCS_chr11_44061270_44089237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:44083431
|
C | T | 0.4429 | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(191): Show |
a0002a0003a0006others(3): Show | a0002c0003a0002c0004a0002c0018others(6): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(16): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(137): Show | 194 | 438 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 14/15 | c.1262C>T | p.Pro421Leu | 1694/2383 | 1262/1506 | 421/501 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:44079568
|
C | T | 0.1530 | synonymous_variant | LOW | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 10/15 | c.871C>T | p.Leu291Leu | 1303/2383 | 871/1506 | 291/501 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:44067611
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(252): Show | 355 | 438 | 0.8105 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1/14 | c.1-17G>A | ||||||
|
chr11:44068020
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0003a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(72): Show | 116 | 438 | 0.2648 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 2/14 | c.288+105G>C | ||||||
|
chr11:44068950
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(432): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(295): Show | 435 | 438 | 0.9932 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 2/14 | c.288+1035G>A | ||||||
|
chr11:44069282
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 295 | 438 | 0.6735 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 2/14 | c.288+1367T>C | ||||||
|
chr11:44069512
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 295 | 438 | 0.6735 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 2/14 | c.288+1597T>C | ||||||
|
chr11:44071747
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(264): Show | 378 | 438 | 0.8630 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 3/14 | c.348+432T>C | ||||||
|
chr11:44072148
|
T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(115): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(65): Show | 118 | 438 | 0.2694 | 16 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 3/14 | c.348+846_348+861dupTTTATTTATTTATTTA | INFO_REALIGN_3_PRIME | |||||
|
chr11:44072866
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0017a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0163a0001c0001t0001g0178a0001c0001t0001g0191others(91): Show | 125 | 438 | 0.2854 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 3/14 | c.349-581C>T | ||||||
|
chr11:44073751
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(271): Show | 390 | 438 | 0.8904 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 4/14 | c.419+234A>G | ||||||
|
chr11:44074232
|
GA | G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0004a0002c0018others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(5): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | -1 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 4/14 | c.420-378delA | INFO_REALIGN_3_PRIME | |||||
|
chr11:44074565
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(65): Show |
a0002a0003a0010 | a0002c0003a0002c0004a0002c0018others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(5): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(44): Show | 68 | 438 | 0.1553 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 4/14 | c.420-47G>A | ||||||
|
chr11:44074688
|
G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0017a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(238): Show | 353 | 438 | 0.8059 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | c.489+7G>A | ||||||
|
chr11:44074750
|
T | TTCTTTCT others(39): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01433.hp1 others(7): Show |
a0002a0003 | a0002c0003a0003c0008 | a0002c0003t0001a0003c0008t0001 | a0002c0003t0001g0020a0002c0003t0001g0024a0002c0003t0001g0111others(2): Show | 10 | 438 | 0.0228 | 46 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:44074848
|
T | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(66): Show |
a0002a0003a0010 | a0002c0003a0002c0004a0002c0018others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(6): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(45): Show | 69 | 438 | 0.1575 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | c.489+167T>A | ||||||
|
chr11:44074864
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(368): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(255): Show | 371 | 438 | 0.8470 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | c.489+183A>G | ||||||
|
chr11:44076314
|
C | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 6/14 | c.556+722C>T | ||||||
|
chr11:44077201
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 6/14 | c.557-78G>A | ||||||
|
chr11:44077419
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 7/14 | c.654+43G>A | ||||||
|
chr11:44077435
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0002c0003t0001others(19): Show | a0001c0001t0001g0265a0001c0001t0004g0036a0001c0001t0004g0087others(143): Show | 201 | 438 | 0.4589 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 7/14 | c.654+59G>A | ||||||
|
chr11:44078308
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(262): Show | 381 | 438 | 0.8699 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 8/14 | c.733-376G>A | ||||||
|
chr11:44078992
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0017a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0265a0001c0001t0003g0279a0001c0001t0004g0036others(144): Show | 201 | 438 | 0.4589 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 9/14 | c.833+208G>T | ||||||
|
chr11:44079777
|
C | G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 10/14 | c.923+157C>G | ||||||
|
chr11:44079914
|
C | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 10/14 | c.923+294C>T | ||||||
|
chr11:44080257
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0017a0002c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(230): Show | 344 | 438 | 0.7854 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 10/14 | c.923+637G>T | ||||||
|
chr11:44082408
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(64): Show |
a0002a0003a0010 | a0002c0003a0002c0018a0003c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(4): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0003t0001g0011others(43): Show | 67 | 438 | 0.1530 | 0 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 12/14 | c.1112-761A>G | ||||||
|
chr11:44083151
|
C | CCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0017a0002c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(239): Show | 355 | 438 | 0.8105 | 2 | ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 12/14 | c.1112-15_1112-14dupCT | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 0/1 | a0002 | 501 | 111 | 25 | 17 | 53 | 7 | 8 | subcellular location copy fasta | chr11 | 44061270 | 44089237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 0/0 | c0003 | 1506 | 62 | 13 | 10 | 30 | 3 | 6 | copy fasta | chr11 | 44061270 | 44089237 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 1/1 | t0001 | 878 | 342 | 89 | 62 | 141 | 12 | 36 | copy fasta | chr11 | 44061270 | 44089237 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 0/0 | g0020 | 3 | 0 | 0 | 3 | 0 | 0 | chr11 | 44061270 | 44089237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 0/0 | a0002c0003 | 62 | 13 | 10 | 30 | 3 | 6 | 1506 | copy fasta | chr11 | 44061270 | 44089237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 0/0 | a0002c0003t0001 | 58 | 13 | 10 | 26 | 3 | 6 | 2383 | copy fasta | chr11 | 44061270 | 44089237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACCS | 0/0 | a0002c0003t0001g0020 | 3 | 0 | 0 | 3 | 0 | 0 | chr11 | 44061270 | 44089237 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 44066701 | + | 1 | -0.6559 | -0.6559 | -0.6559 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44067628 | + | 2 | 0.9615 | 0.9615 | 0.9615 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44067915 | + | 2 | -0.9924 | -0.9924 | -0.9924 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44071256 | + | 3 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44071315 | + | 3 | -0.9380 | -0.9380 | -0.9380 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44073447 | + | 4 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44073517 | + | 4 | -0.9727 | -0.9727 | -0.9727 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44074612 | + | 5 | 0.9769 | 0.9769 | 0.9769 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44074681 | + | 5 | -0.9896 | -0.9896 | -0.9896 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44075526 | + | 6 | 0.8734 | 0.8734 | 0.8734 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44075592 | + | 6 | -0.8910 | -0.8910 | -0.8910 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44077279 | + | 7 | 0.8805 | 0.8805 | 0.8805 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44077376 | + | 7 | -0.9671 | -0.9671 | -0.9671 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44077845 | + | 8 | 0.7226 | 0.7226 | 0.7226 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44077922 | + | 8 | -0.7366 | -0.7366 | -0.7366 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44078684 | + | 9 | 0.4959 | 0.4959 | 0.4959 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44078784 | + | 9 | -0.8059 | -0.8059 | -0.8059 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44079531 | + | 10 | 0.9854 | 0.9854 | 0.9854 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44079620 | + | 10 | -0.9908 | -0.9908 | -0.9908 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44081020 | + | 11 | 0.9641 | 0.9641 | 0.9641 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44081065 | + | 11 | -0.9740 | -0.9739 | -0.9740 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44081179 | + | 12 | 0.9656 | 0.9656 | 0.9656 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44081320 | + | 12 | -0.8775 | -0.8775 | -0.8775 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44083169 | + | 13 | 0.9824 | 0.9824 | 0.9824 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44083311 | + | 13 | -0.9897 | -0.9897 | -0.9897 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44083424 | + | 14 | 0.7993 | 0.7993 | 0.7993 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44083577 | + | 14 | -0.7374 | -0.7374 | -0.7374 | 0.0000 | acceptor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 44083695 | + | 15 | 0.8478 | 0.8478 | 0.8478 | 0.0000 | donor | a0002c0003t0001g0020 | NA18945.hp2 NA18992.hp2 NA19074.hp1 |
NA18945.hp2 NA18992.hp2 NA19074.hp1 |
ACCS | chr11 | 44061270 | 44089237 |
| 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 |
|---|
| 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 |
|---|