| geneid | 23461 |
|---|---|
| ensemblid | ENSG00000154265.16 |
| hgncid | 35 |
| symbol | ABCA5 |
| name | ATP binding cassette subfamily A member 5 |
| refseq_nuc | NM_172232.4 |
| refseq_prot | NP_758424.1 |
| ensembl_nuc | ENST00000392676.8 |
| ensembl_prot | ENSP00000376443.2 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 69244311 |
| end | 69327133 |
| strand | - |
| ver | v1.2 |
| region | chr17:69244311-69327133 |
| region5000 | chr17:69239311-69332133 |
| regionname0 | ABCA5_chr17_69244311_69327133 |
| regionname5000 | ABCA5_chr17_69239311_69332133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69277741
|
C | A | 0.8057 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0005others(9): Show | a0001c0002a0001c0004a0001c0006others(18): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(39): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(277): Show | 282 | 350 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/39 | c.2494G>T | p.Ala832Ser | 2591/8252 | 2494/4929 | 832/1642 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69244554
|
T | C | 0.0086 | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | c.*2983A>G | 2983 | |||||
|
chr17:69246615
|
G | A | 0.6057 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(28): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(207): Show | 212 | 350 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | c.*922C>T | 922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69248558
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0014a0001c0004t0027a0001c0010t0010 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(4): Show | 7 | 350 | 0.0200 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 37/38 | c.4766-241G>A | ||||||
|
chr17:69249800
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(328): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(325): Show | 331 | 350 | 0.9457 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 37/38 | c.4765+105C>T | ||||||
|
chr17:69250354
|
G | GAT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01433.hp2 others(3): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0014a0001c0004t0027a0001c0006t0001 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(3): Show | 6 | 350 | 0.0171 | 2 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 36/38 | c.4685+116_4685+117dupAT | ||||||
|
chr17:69251040
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 35/38 | c.4536-419C>T | ||||||
|
chr17:69252256
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(244): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0006others(16): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(38): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(241): Show | 247 | 350 | 0.7057 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | c.4416-390A>G | ||||||
|
chr17:69256440
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(164): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0004a0001c0006others(10): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(24): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(163): Show | 167 | 350 | 0.4771 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | c.3732-157A>G | ||||||
|
chr17:69258596
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | c.3731+1110G>A | ||||||
|
chr17:69259245
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(212): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(30): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(210): Show | 215 | 350 | 0.6143 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | c.3731+461T>C | ||||||
|
chr17:69259668
|
T | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | c.3731+38A>T | ||||||
|
chr17:69261548
|
ACAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp2 others(45): Show |
a0001a0004a0005 | a0001c0004a0001c0010a0001c0022others(2): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0008others(11): Show | a0001c0004t0003g0166a0001c0004t0003g0336a0001c0004t0003g0337others(45): Show | 48 | 350 | 0.1371 | -3 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 25/38 | c.3429+84_3429+86delATG | ||||||
|
chr17:69263697
|
C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0322a0001c0004t0027g0320 | 2 | 350 | 0.0057 | 46 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||||||
|
chr17:69263720
|
A | G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | c.3315+1015T>C | ||||||
|
chr17:69264253
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp2 others(46): Show |
a0001a0004a0005 | a0001c0004a0001c0010a0001c0022others(2): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0008others(11): Show | a0001c0004t0003g0166a0001c0004t0003g0331a0001c0004t0003g0336others(46): Show | 49 | 350 | 0.1400 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | c.3315+482A>G | ||||||
|
chr17:69265456
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | c.3145-551C>T | ||||||
|
chr17:69266443
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0014a0001c0004t0027a0001c0010t0010 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(4): Show | 7 | 350 | 0.0200 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | c.3144+1500G>A | ||||||
|
chr17:69267565
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | c.3144+378C>T | ||||||
|
chr17:69271695
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | c.2765-406A>G | ||||||
|
chr17:69272126
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(44): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(319): Show | 325 | 350 | 0.9286 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | c.2765-837C>T | ||||||
|
chr17:69273271
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(330): Show | 336 | 350 | 0.9600 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | c.2764+688A>G | ||||||
|
chr17:69273447
|
C | CTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(100): Show |
a0001a0002a0007others(5): Show | a0001c0002a0001c0004a0001c0013others(7): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(14): Show | a0001c0002t0001g0055a0001c0002t0001g0057a0001c0002t0001g0058others(100): Show | 103 | 350 | 0.2943 | 16 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | c.2764+496_2764+511dupAATAAATAAATAAATA | ||||||
|
chr17:69273600
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | c.2764+359G>A | ||||||
|
chr17:69274839
|
C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0326a0001c0004t0005g0330a0001c0004t0014g0321others(2): Show | 5 | 350 | 0.0143 | 10 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | c.2595-721_2595-712dupAAAAAAAAAA | ||||||
|
chr17:69275434
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(1): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(12): Show | 15 | 350 | 0.0429 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | c.2595-1306A>G | ||||||
|
chr17:69276377
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | c.2594+1264C>T | ||||||
|
chr17:69276385
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(51): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(342): Show | 348 | 350 | 0.9943 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | c.2594+1256T>G | ||||||
|
chr17:69279728
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01099.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0001a0003c0003others(1): Show | a0001c0004t0005a0001c0004t0014a0001c0004t0017others(4): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(14): Show | 17 | 350 | 0.0486 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2393-1886C>T | ||||||
|
chr17:69280411
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(46): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(325): Show | 331 | 350 | 0.9457 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2393-2569G>A | ||||||
|
chr17:69280477
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2393-2635C>A | ||||||
|
chr17:69281047
|
AAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(13): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0001 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(2): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(13): Show | 16 | 350 | 0.0457 | -4 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2392+2902_2392+2905delATTT | ||||||
|
chr17:69281591
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2392+2362T>G | ||||||
|
chr17:69283752
|
GAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(1): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(12): Show | 15 | 350 | 0.0429 | -2 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2392+199_2392+200delAT | ||||||
|
chr17:69283818
|
C | CAGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(44): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(319): Show | 325 | 350 | 0.9286 | 4 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | c.2392+131_2392+134dupTACT | ||||||
|
chr17:69284084
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | c.2273-12T>G | ||||||
|
chr17:69284169
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(330): Show | 336 | 350 | 0.9600 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | c.2273-97T>G | ||||||
|
chr17:69285214
|
T | C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | c.2272+684A>G | ||||||
|
chr17:69285320
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(42): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(307): Show | 313 | 350 | 0.8943 | -1 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | c.2272+577delT | ||||||
|
chr17:69286191
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(119): Show |
a0001a0010a0011 | a0001c0002a0001c0004a0001c0006others(6): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(13): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(118): Show | 122 | 350 | 0.3486 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 16/38 | c.2132+30A>G | ||||||
|
chr17:69288719
|
GAAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0020others(43): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(270): Show | 275 | 350 | 0.7857 | -4 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | c.1902+454_1902+457delTCTT | ||||||
|
chr17:69289120
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | c.1902+57G>A | ||||||
|
chr17:69291393
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(1): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(12): Show | 15 | 350 | 0.0429 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | c.1496-67A>G | ||||||
|
chr17:69291958
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(48): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(327): Show | 333 | 350 | 0.9514 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | c.1496-632A>G | ||||||
|
chr17:69293363
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(10): Show | a0001c0002a0001c0004a0001c0006others(18): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(39): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(273): Show | 278 | 350 | 0.7943 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | c.1495+1292G>A | ||||||
|
chr17:69293833
|
G | GGT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01168.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0001a0001c0004t0008a0001c0004t0014others(7): Show | a0001c0002t0001g0064a0001c0002t0001g0065a0001c0002t0001g0081others(28): Show | 31 | 350 | 0.0886 | 2 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | c.1495+820_1495+821dupAC | ||||||
|
chr17:69296431
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(48): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(327): Show | 333 | 350 | 0.9514 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 10/38 | c.1436+760G>T | ||||||
|
chr17:69296730
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 10/38 | c.1436+461G>A | ||||||
|
chr17:69297394
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(48): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(327): Show | 333 | 350 | 0.9514 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | c.1268-35T>C | ||||||
|
chr17:69298273
|
AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0001a0005 | a0001c0004a0001c0010a0005c0007 | a0001c0004t0014a0001c0004t0027a0001c0010t0010others(1): Show | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(5): Show | 8 | 350 | 0.0229 | -12 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | c.1268-926_1268-915delCCCTTCCTTCCT | ||||||
|
chr17:69298316
|
G | GAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01109.hp1 others(37): Show |
a0001a0002a0010 | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0004t0014others(7): Show | a0001c0002t0001g0046a0001c0002t0001g0055a0001c0002t0001g0057others(37): Show | 40 | 350 | 0.1143 | 16 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | c.1268-973_1268-958dupTCCTTCCTTCCTTCCT | ||||||
|
chr17:69298350
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0005others(10): Show | a0001c0002a0001c0004a0001c0006others(18): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(37): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(271): Show | 276 | 350 | 0.7886 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | c.1268-991T>C | ||||||
|
chr17:69298610
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(47): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(326): Show | 332 | 350 | 0.9486 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | c.1268-1251A>G | ||||||
|
chr17:69299471
|
T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(15): Show |
a0001 | a0001c0002a0001c0004a0001c0010 | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(1): Show | a0001c0002t0001g0047a0001c0002t0001g0055a0001c0002t0001g0057others(15): Show | 18 | 350 | 0.0514 | 14 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | c.1267+1654_1267+1667dupGTGTGTGTGTGTGT | ||||||
|
chr17:69301465
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(7): Show | 10 | 350 | 0.0286 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 8/38 | c.1120-179G>A | ||||||
|
chr17:69301716
|
T | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 8/38 | c.1120-430A>T | ||||||
|
chr17:69303003
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.931-97C>T | ||||||
|
chr17:69303785
|
A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0322 | 1 | 350 | 0.0029 | 49 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.931-880_931-879insGTATGTATATATATATATGTGTGTATATATATATATATATATATATATA | ||||||
|
chr17:69303795
|
T | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02280.hp2 others(1): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0014a0001c0004t0027a0003c0003t0003 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(1): Show | 4 | 350 | 0.0114 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.930+874A>G | ||||||
|
chr17:69303823
|
T | C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01167.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0001a0003c0003others(3): Show | a0001c0004t0014a0001c0004t0027a0002c0001t0002others(6): Show | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320others(35): Show | 39 | 350 | 0.1114 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.930+846A>G | ||||||
|
chr17:69303826
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(43): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(315): Show | 321 | 350 | 0.9171 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.930+843C>T | ||||||
|
chr17:69303837
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(100): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0001c0006others(5): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(11): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(99): Show | 103 | 350 | 0.2943 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.930+832A>G | ||||||
|
chr17:69303845
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(103): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0001c0006others(5): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(13): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(102): Show | 106 | 350 | 0.3029 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.930+824G>A | ||||||
|
chr17:69304508
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(44): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(319): Show | 325 | 350 | 0.9286 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | c.930+161T>C | ||||||
|
chr17:69304982
|
A | AAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(330): Show | 336 | 350 | 0.9600 | 2 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 6/38 | c.789-174_789-173dupAT | ||||||
|
chr17:69306300
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(48): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(327): Show | 333 | 350 | 0.9514 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 6/38 | c.788+425T>C | ||||||
|
chr17:69307794
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001a0002a0010others(1): Show | a0001c0002a0001c0004a0001c0006others(8): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(15): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(128): Show | 132 | 350 | 0.3771 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 5/38 | c.558+486A>C | ||||||
|
chr17:69308131
|
A | ACTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(43): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(317): Show | 323 | 350 | 0.9229 | 3 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 5/38 | c.558+146_558+148dupAAG | ||||||
|
chr17:69309772
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 3/38 | c.308-349G>A | ||||||
|
chr17:69313423
|
A | AAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(47): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(326): Show | 332 | 350 | 0.9486 | 2 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 2/38 | c.103-128_103-127insCT | ||||||
|
chr17:69317399
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(156): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0002c0001others(11): Show | a0001c0002t0012a0001c0004t0003a0001c0004t0005others(26): Show | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012others(154): Show | 159 | 350 | 0.4543 | -1 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-15-2970delT | ||||||
|
chr17:69318114
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(220): Show |
a0001a0002a0007others(7): Show | a0001c0002a0001c0004a0001c0006others(14): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(27): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(219): Show | 223 | 350 | 0.6371 | -1 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-15-3685delA | ||||||
|
chr17:69318575
|
T | TA | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01516.hp1 others(8): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(2): Show | a0001c0002t0001g0112a0001c0002t0001g0113a0001c0002t0001g0114others(8): Show | 11 | 350 | 0.0314 | 1 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-15-4146dupT | ||||||
|
chr17:69318748
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0004t0005a0001c0004t0014others(1): Show | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012others(11): Show | 14 | 350 | 0.0400 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-15-4318T>G | ||||||
|
chr17:69319301
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0004t0005a0001c0004t0014others(1): Show | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012others(11): Show | 14 | 350 | 0.0400 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-15-4871G>T | ||||||
|
chr17:69319367
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(329): Show | 335 | 350 | 0.9571 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-15-4937C>T | ||||||
|
chr17:69320812
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(45): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(319): Show | 325 | 350 | 0.9286 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+6240G>C | ||||||
|
chr17:69320943
|
T | C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+6109A>G | ||||||
|
chr17:69321205
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(47): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(323): Show | 329 | 350 | 0.9400 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+5847G>T | ||||||
|
chr17:69321531
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+5521G>A | ||||||
|
chr17:69321736
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+5316A>G | ||||||
|
chr17:69322363
|
CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | -12 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+4677_-16+4688delTTTTTTTTTTTT | ||||||
|
chr17:69322390
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(47): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(326): Show | 332 | 350 | 0.9486 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+4662C>T | ||||||
|
chr17:69322805
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(191): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0006others(13): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(28): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(189): Show | 194 | 350 | 0.5543 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+4247A>G | ||||||
|
chr17:69323420
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(127): Show |
a0001a0010a0011 | a0001c0002a0001c0004a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(14): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(126): Show | 130 | 350 | 0.3714 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+3632C>T | ||||||
|
chr17:69323721
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0003a0005others(4): Show | a0001c0002a0001c0004a0001c0006others(12): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(28): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(191): Show | 196 | 350 | 0.5600 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+3331T>A | ||||||
|
chr17:69325357
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(183): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(23): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(181): Show | 186 | 350 | 0.5314 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+1695G>C | ||||||
|
chr17:69325566
|
A | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+1486T>A | ||||||
|
chr17:69327014
|
G | A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(24): Show |
a0001a0005 | a0001c0004a0001c0010a0005c0007 | a0001c0004t0003a0001c0004t0005a0001c0004t0014others(4): Show | a0001c0004t0003g0331a0001c0004t0003g0336a0001c0004t0003g0337others(24): Show | 27 | 350 | 0.0771 | 0 | ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | c.-16+38C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | a0001 | 1642 | 141 | 33 | 25 | 57 | 7 | 19 | subcellular location copy fasta | chr17 | 69239311 | 69332133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | c0004 | 4929 | 19 | 12 | 5 | 0 | 1 | 1 | copy fasta | chr17 | 69239311 | 69332133 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | t0014 | 3324 | 2 | 2 | 0 | 0 | 0 | 0 | copy fasta | chr17 | 69239311 | 69332133 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | g0322 | 1 | 1 | 0 | 0 | 0 | 0 | chr17 | 69239311 | 69332133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | a0001c0004 | 19 | 12 | 5 | 0 | 1 | 1 | 4929 | copy fasta | chr17 | 69239311 | 69332133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | a0001c0004t0014 | 2 | 2 | 0 | 0 | 0 | 0 | 8252 | copy fasta | chr17 | 69239311 | 69332133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA5 | 0/0 | a0001c0004t0014g0322 | 1 | 1 | 0 | 0 | 0 | 0 | chr17 | 69239311 | 69332133 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69327052 | - | 1 | -0.8140 | -0.8140 | -0.8140 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69314314 | - | 2 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69314430 | - | 2 | 0.9606 | 0.9606 | 0.9606 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69313092 | - | 3 | -0.9852 | -0.9852 | -0.9852 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69313296 | - | 3 | 0.9702 | 0.9702 | 0.9702 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69309262 | - | 4 | -0.9835 | -0.9835 | -0.9835 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69309423 | - | 4 | 0.9887 | 0.9887 | 0.9887 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69308280 | - | 5 | -0.9487 | -0.9487 | -0.9487 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69308368 | - | 5 | 0.9804 | 0.9804 | 0.9804 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69306725 | - | 6 | -0.7836 | -0.7836 | -0.7836 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69306954 | - | 6 | 0.8490 | 0.8490 | 0.8490 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69304669 | - | 7 | -0.9181 | -0.9181 | -0.9181 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69304810 | - | 7 | 0.7861 | 0.7861 | 0.7861 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69302718 | - | 8 | -0.7312 | -0.7312 | -0.7312 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69302906 | - | 8 | 0.8448 | 0.8448 | 0.8448 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69301139 | - | 9 | -0.9480 | -0.9480 | -0.9480 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69301286 | - | 9 | 0.8573 | 0.8573 | 0.8573 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69297191 | - | 10 | -0.9915 | -0.9915 | -0.9915 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69297359 | - | 10 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69294655 | - | 11 | -0.9681 | -0.9681 | -0.9681 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69294713 | - | 11 | 0.9688 | 0.9688 | 0.9688 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69291216 | - | 12 | -0.9732 | -0.9732 | -0.9732 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69291326 | - | 12 | 0.9956 | 0.9956 | 0.9956 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69289862 | - | 13 | -0.7118 | -0.7118 | -0.7118 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69290037 | - | 13 | 0.5595 | 0.5595 | 0.5595 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69289177 | - | 14 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69289296 | - | 14 | 0.9975 | 0.9974 | 0.9975 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69287613 | - | 15 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69287751 | - | 15 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69286221 | - | 16 | -0.9625 | -0.9625 | -0.9625 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69286311 | - | 16 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69285898 | - | 17 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69286037 | - | 17 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69283953 | - | 18 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69284072 | - | 18 | 0.9943 | 0.9943 | 0.9943 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69277641 | - | 19 | -0.8524 | -0.8524 | -0.8524 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69277842 | - | 19 | 0.8006 | 0.8006 | 0.8006 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69273959 | - | 20 | -0.5734 | -0.5734 | -0.5734 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69274128 | - | 20 | 0.7151 | 0.7151 | 0.7151 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69271162 | - | 21 | -0.9808 | -0.9808 | -0.9808 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69271289 | - | 21 | 0.9631 | 0.9630 | 0.9631 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69270613 | - | 22 | -0.7648 | -0.7648 | -0.7648 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69270750 | - | 22 | 0.8441 | 0.8441 | 0.8441 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69267943 | - | 23 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69268056 | - | 23 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69264735 | - | 24 | -0.9665 | -0.9665 | -0.9665 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69264905 | - | 24 | 0.9408 | 0.9408 | 0.9408 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261635 | - | 25 | -0.7846 | -0.7846 | -0.7846 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261748 | - | 25 | 0.7612 | 0.7611 | 0.7612 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261125 | - | 26 | -0.9926 | -0.9926 | -0.9926 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261259 | - | 26 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69260338 | - | 27 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69260412 | - | 27 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69259706 | - | 28 | -0.9866 | -0.9866 | -0.9866 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69259797 | - | 28 | 0.9846 | 0.9846 | 0.9846 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69256157 | - | 29 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69256283 | - | 29 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69255733 | - | 30 | -0.6670 | -0.6670 | -0.6670 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69255850 | - | 30 | 0.9194 | 0.9194 | 0.9194 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69255543 | - | 31 | -0.9964 | -0.9964 | -0.9964 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69255634 | - | 31 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69254315 | - | 32 | -0.9933 | -0.9933 | -0.9933 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69254490 | - | 32 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69253794 | - | 33 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69253869 | - | 33 | 0.9996 | 0.9996 | 0.9996 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69253573 | - | 34 | -0.9593 | -0.9593 | -0.9593 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69253667 | - | 34 | 0.9811 | 0.9811 | 0.9811 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69251747 | - | 35 | -0.7322 | -0.7321 | -0.7322 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69251866 | - | 35 | 0.6721 | 0.6721 | 0.6721 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69250472 | - | 36 | -0.9961 | -0.9960 | -0.9961 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69250621 | - | 36 | 0.9853 | 0.9853 | 0.9853 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69249905 | - | 37 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69249984 | - | 37 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69248262 | - | 38 | -0.9885 | -0.9885 | -0.9885 | 0.0000 | acceptor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69248317 | - | 38 | 0.9735 | 0.9735 | 0.9735 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69247644 | - | 39 | 0.9631 | 0.9630 | 0.9631 | 0.0000 | donor | a0001c0004t0014g0322 | HG02055.hp1 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 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 |
|---|