| 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 |
| 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 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 |
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 | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69314314 | - | 2 | -0.9931 | -0.9931 | -0.9930 | 0.0001 | acceptor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69314430 | - | 2 | 0.9607 | 0.9606 | 0.9606 | 0.0001 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69313092 | - | 3 | -0.9852 | -0.9852 | -0.9852 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69313296 | - | 3 | 0.9702 | 0.9702 | 0.9702 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69309262 | - | 4 | -0.9835 | -0.9835 | -0.9835 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69309423 | - | 4 | 0.9887 | 0.9887 | 0.9887 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69308280 | - | 5 | -0.9487 | -0.9487 | -0.9487 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69308368 | - | 5 | 0.9804 | 0.9804 | 0.9804 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69306725 | - | 6 | -0.7836 | -0.7836 | -0.7836 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69306954 | - | 6 | 0.8490 | 0.8490 | 0.8490 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69304669 | - | 7 | -0.9192 | -0.9186 | -0.9181 | 0.0011 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69304810 | - | 7 | 0.7861 | 0.7856 | 0.7851 | 0.0010 | donor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69302718 | - | 8 | -0.7312 | -0.7308 | -0.7305 | 0.0008 | acceptor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69302906 | - | 8 | 0.8454 | 0.8451 | 0.8448 | 0.0006 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69301139 | - | 9 | -0.9557 | -0.9518 | -0.9480 | 0.0077 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69301286 | - | 9 | 0.8573 | 0.8561 | 0.8550 | 0.0023 | donor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69297191 | - | 10 | -0.9916 | -0.9916 | -0.9915 | 0.0001 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69297359 | - | 10 | 0.9938 | 0.9935 | 0.9932 | 0.0006 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69294655 | - | 11 | -0.9749 | -0.9715 | -0.9681 | 0.0068 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69294713 | - | 11 | 0.9704 | 0.9696 | 0.9688 | 0.0015 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69291216 | - | 12 | -0.9756 | -0.9744 | -0.9732 | 0.0024 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69291326 | - | 12 | 0.9956 | 0.9953 | 0.9949 | 0.0007 | donor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69289862 | - | 13 | -0.7118 | -0.7118 | -0.7118 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69290037 | - | 13 | 0.5596 | 0.5595 | 0.5595 | 0.0001 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69289177 | - | 14 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69289296 | - | 14 | 0.9975 | 0.9974 | 0.9975 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69287613 | - | 15 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69287751 | - | 15 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69286221 | - | 16 | -0.9625 | -0.9625 | -0.9625 | 0.0001 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69286311 | - | 16 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69285898 | - | 17 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69286037 | - | 17 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69283953 | - | 18 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69284072 | - | 18 | 0.9943 | 0.9943 | 0.9942 | 0.0002 | donor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69277641 | - | 19 | -0.8524 | -0.8524 | -0.8524 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69277842 | - | 19 | 0.8006 | 0.8006 | 0.8006 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69273959 | - | 20 | -0.5734 | -0.5734 | -0.5734 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69274128 | - | 20 | 0.7151 | 0.7151 | 0.7151 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69271162 | - | 21 | -0.9808 | -0.9808 | -0.9808 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69271289 | - | 21 | 0.9631 | 0.9630 | 0.9631 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69270613 | - | 22 | -0.7648 | -0.7648 | -0.7648 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69270750 | - | 22 | 0.8441 | 0.8441 | 0.8441 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69267943 | - | 23 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69268056 | - | 23 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69264735 | - | 24 | -0.9665 | -0.9623 | -0.9582 | 0.0083 | acceptor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69264905 | - | 24 | 0.9491 | 0.9450 | 0.9408 | 0.0083 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261635 | - | 25 | -0.7849 | -0.7848 | -0.7846 | 0.0003 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261748 | - | 25 | 0.7612 | 0.7591 | 0.7571 | 0.0040 | donor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261125 | - | 26 | -0.9926 | -0.9919 | -0.9913 | 0.0012 | acceptor | a0001c0004t0014 | HG02055.hp1 | HG03471.hp2 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69261259 | - | 26 | 0.9882 | 0.9880 | 0.9879 | 0.0003 | donor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69260338 | - | 27 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0001c0004t0014 | HG03471.hp2 | HG02055.hp1 | ABCA5 | chr17 | 69239311 | 69332133 |
| 69260412 | - | 27 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69259706 | - | 28 | -0.9866 | -0.9866 | -0.9866 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69259797 | - | 28 | 0.9846 | 0.9846 | 0.9846 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69256157 | - | 29 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69256283 | - | 29 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69255733 | - | 30 | -0.6670 | -0.6670 | -0.6670 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69255850 | - | 30 | 0.9194 | 0.9194 | 0.9194 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69255543 | - | 31 | -0.9964 | -0.9964 | -0.9964 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69255634 | - | 31 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69254315 | - | 32 | -0.9933 | -0.9933 | -0.9933 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69254490 | - | 32 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69253794 | - | 33 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69253869 | - | 33 | 0.9996 | 0.9996 | 0.9996 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69253573 | - | 34 | -0.9593 | -0.9593 | -0.9593 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69253667 | - | 34 | 0.9811 | 0.9811 | 0.9811 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69251747 | - | 35 | -0.7322 | -0.7321 | -0.7322 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69251866 | - | 35 | 0.6721 | 0.6721 | 0.6721 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69250472 | - | 36 | -0.9961 | -0.9960 | -0.9961 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69250621 | - | 36 | 0.9853 | 0.9853 | 0.9853 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69249905 | - | 37 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69249984 | - | 37 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69248262 | - | 38 | -0.9885 | -0.9885 | -0.9885 | 0.0000 | acceptor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69248317 | - | 38 | 0.9735 | 0.9735 | 0.9735 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
ABCA5 | chr17 | 69239311 | 69332133 |
| 69247644 | - | 39 | 0.9631 | 0.9630 | 0.9631 | 0.0000 | donor | a0001c0004t0014 | HG02055.hp1 HG03471.hp2 |
HG02055.hp1 HG03471.hp2 |
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 |
|---|