| geneid | 10350 |
|---|---|
| ensemblid | ENSG00000154258.17 |
| hgncid | 39 |
| symbol | ABCA9 |
| name | ATP binding cassette subfamily A member 9 |
| refseq_nuc | NM_080283.4 |
| refseq_prot | NP_525022.2 |
| ensembl_nuc | ENST00000340001.9 |
| ensembl_prot | ENSP00000342216.3 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 68974488 |
| end | 69060927 |
| strand | - |
| ver | v1.2 |
| region | chr17:68974488-69060927 |
| region5000 | chr17:68969488-69065927 |
| regionname0 | ABCA9_chr17_68974488_69060927 |
| regionname5000 | ABCA9_chr17_68969488_69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69035316
|
C | T | 0.8910 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 8/39 | c.1058G>A | p.Arg353His | 1133/6377 | 1058/4875 | 353/1624 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/0 | a0001 | 1624 | 108 | 23 | 11 | 52 | 8 | 14 | subcellular location copy fasta | chr17 | 68969488 | 69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/0 | c0001 | 4875 | 87 | 12 | 7 | 52 | 3 | 13 | copy fasta | chr17 | 68969488 | 69065927 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 1/0 | t0001 | 1503 | 125 | 22 | 15 | 60 | 8 | 19 | copy fasta | chr17 | 68969488 | 69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/0 | a0001c0001 | 87 | 12 | 7 | 52 | 3 | 13 | 4875 | copy fasta | chr17 | 68969488 | 69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/0 | a0001c0001t0001 | 78 | 8 | 4 | 50 | 3 | 13 | 6377 | copy fasta | chr17 | 68969488 | 69065927 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69060866 | - | 1 | -0.3239 | -0.3225 | -0.2898 | 0.0341 | acceptor | a0001c0001t0001 | NA18747.hp2 | HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69051031 | - | 2 | -0.9669 | -0.9423 | -0.9405 | 0.0263 | acceptor | a0001c0001t0001 | HG01884.hp2 NA19030.hp2 |
NA20905.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69051139 | - | 2 | 0.9401 | 0.9273 | 0.8952 | 0.0450 | donor | a0001c0001t0001 | NA18962.hp1 | NA19009.hp1 NA19067.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69049283 | - | 3 | -0.8121 | -0.7584 | -0.7477 | 0.0644 | acceptor | a0001c0001t0001 | NA20905.hp1 | HG00438.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69049490 | - | 3 | 0.8220 | 0.8001 | 0.7988 | 0.0232 | donor | a0001c0001t0001 | NA20905.hp1 | NA19074.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69045172 | - | 4 | -0.9946 | -0.9941 | -0.9932 | 0.0015 | acceptor | a0001c0001t0001 | NA18987.hp1 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69045336 | - | 4 | 0.9961 | 0.9960 | 0.9954 | 0.0007 | donor | a0001c0001t0001 | HG03831.hp2 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69044497 | - | 5 | -0.9946 | -0.9935 | -0.9933 | 0.0012 | acceptor | a0001c0001t0001 | HG03540.hp2 | HG02135.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69044600 | - | 5 | 0.9890 | 0.9787 | 0.9763 | 0.0128 | donor | a0001c0001t0001 | NA18987.hp1 | HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69043489 | - | 6 | -0.3323 | -0.3031 | -0.2827 | 0.0496 | acceptor | a0001c0001t0001 | HG03540.hp2 | HG02080.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69043715 | - | 6 | 0.9306 | 0.9221 | 0.9175 | 0.0131 | donor | a0001c0001t0001 | HG03540.hp2 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69035660 | - | 7 | -0.9982 | -0.9982 | -0.9981 | 0.0001 | acceptor | a0001c0001t0001 | HG04199.hp1 NA18967.hp1 |
HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69035801 | - | 7 | 0.9986 | 0.9986 | 0.9985 | 0.0001 | donor | a0001c0001t0001 | HG00438.hp2 HG01175.hp2 HG01934.hp1 HG02074.hp1 HG02080.hp1 others(14): Show |
HG03704.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69035246 | - | 8 | -0.7800 | -0.7781 | -0.7676 | 0.0124 | acceptor | a0001c0001t0001 | NA18982.hp1 | HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69035431 | - | 8 | 0.7992 | 0.7935 | 0.7871 | 0.0121 | donor | a0001c0001t0001 | NA19058.hp1 | HG03704.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69033726 | - | 9 | -0.9739 | -0.9737 | -0.9716 | 0.0022 | acceptor | a0001c0001t0001 | HG01081.hp2 NA19058.hp1 |
HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69033873 | - | 9 | 0.9885 | 0.9880 | 0.9869 | 0.0016 | donor | a0001c0001t0001 | NA20905.hp1 | HG03704.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69032108 | - | 10 | -0.6039 | -0.5950 | -0.5609 | 0.0430 | acceptor | a0001c0001t0001 | NA20905.hp1 | HG03704.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69032276 | - | 10 | 0.3389 | 0.3219 | 0.3137 | 0.0253 | donor | a0001c0001t0001 | NA20905.hp1 | HG03704.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69029169 | - | 11 | -0.9685 | -0.9680 | -0.9620 | 0.0064 | acceptor | a0001c0001t0001 | HG01934.hp1 | HG03831.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69029227 | - | 11 | 0.9670 | 0.9668 | 0.9650 | 0.0020 | donor | a0001c0001t0001 | NA20905.hp1 | HG03831.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69028535 | - | 12 | -0.6589 | -0.6579 | -0.6482 | 0.0107 | acceptor | a0001c0001t0001 | HG06807.hp1 | NA18962.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69028645 | - | 12 | 0.6547 | 0.6532 | 0.6484 | 0.0063 | donor | a0001c0001t0001 | HG03831.hp2 | NA18962.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69027640 | - | 13 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0001c0001t0001 | HG06807.hp1 | HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG01081.hp2 others(57): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69027815 | - | 13 | 0.9972 | 0.9971 | 0.9971 | 0.0001 | donor | a0001c0001t0001 | NA18962.hp1 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69027330 | - | 14 | -0.9883 | -0.9883 | -0.9861 | 0.0022 | acceptor | a0001c0001t0001 | HG01934.hp1 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69027449 | - | 14 | 0.9859 | 0.9857 | 0.9845 | 0.0014 | donor | a0001c0001t0001 | HG00323.hp1 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69026976 | - | 15 | -0.9744 | -0.9741 | -0.9728 | 0.0016 | acceptor | a0001c0001t0001 | HG03540.hp2 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69027114 | - | 15 | 0.9785 | 0.9783 | 0.9782 | 0.0003 | donor | a0001c0001t0001 | HG06807.hp1 | NA19056.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69026377 | - | 16 | -0.9090 | -0.9025 | -0.9012 | 0.0077 | acceptor | a0001c0001t0001 | HG00323.hp1 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69026467 | - | 16 | 0.8842 | 0.8762 | 0.8743 | 0.0100 | donor | a0001c0001t0001 | HG00323.hp1 | HG02738.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69024214 | - | 17 | -0.9703 | -0.9684 | -0.9648 | 0.0055 | acceptor | a0001c0001t0001 | HG03540.hp2 | HG03942.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69024353 | - | 17 | 0.9910 | 0.9905 | 0.9901 | 0.0009 | donor | a0001c0001t0001 | HG04199.hp1 | NA19068.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69021742 | - | 18 | -0.9982 | -0.9979 | -0.9975 | 0.0007 | acceptor | a0001c0001t0001 | NA19068.hp1 | HG04199.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69021861 | - | 18 | 0.9981 | 0.9977 | 0.9971 | 0.0009 | donor | a0001c0001t0001 | HG04204.hp2 | NA19068.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69020388 | - | 19 | -0.9953 | -0.9951 | -0.9947 | 0.0006 | acceptor | a0001c0001t0001 | HG00438.hp2 | NA18992.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69020586 | - | 19 | 0.9956 | 0.9955 | 0.9954 | 0.0002 | donor | a0001c0001t0001 | HG00438.hp2 | NA18992.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69018413 | - | 20 | -0.9418 | -0.9416 | -0.9409 | 0.0009 | acceptor | a0001c0001t0001 | NA18992.hp2 | HG01884.hp2 NA19030.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69018579 | - | 20 | 0.8745 | 0.8742 | 0.8730 | 0.0015 | donor | a0001c0001t0001 | HG01175.hp2 HG02572.hp1 HG03831.hp2 NA18946.hp1 NA18954.hp2 others(2): Show |
HG03490.hp1 HG03492.hp2 HG03831.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69017656 | - | 21 | -0.9969 | -0.9967 | -0.9967 | 0.0001 | acceptor | a0001c0001t0001 | HG00408.hp1 HG02040.hp1 HG02080.hp1 HG02165.hp1 NA18949.hp2 others(11): Show |
HG00323.hp1 HG00323.hp2 HG00438.hp2 HG01106.hp2 HG01934.hp1 others(41): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69017789 | - | 21 | 0.9967 | 0.9967 | 0.9966 | 0.0001 | donor | a0001c0001t0001 | HG01884.hp2 NA19030.hp2 |
NA18992.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69016253 | - | 22 | -0.9988 | -0.9988 | -0.9983 | 0.0004 | acceptor | a0001c0001t0001 | HG00323.hp2 | HG01175.hp2 HG02572.hp1 HG03831.hp2 NA18946.hp1 NA18954.hp2 others(2): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69016390 | - | 22 | 0.9882 | 0.9880 | 0.9870 | 0.0012 | donor | a0001c0001t0001 | HG03540.hp2 | NA19083.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69011976 | - | 23 | -0.3075 | -0.2717 | -0.2410 | 0.0665 | acceptor | a0001c0001t0001 | NA19074.hp1 | HG01175.hp2 HG02572.hp1 HG03831.hp2 NA18946.hp1 NA18954.hp2 others(2): Show |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69012083 | - | 23 | 0.1928 | 0.1804 | 0.1685 | 0.0243 | donor | a0001c0001t0001 | NA19083.hp1 | NA18974.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69008062 | - | 24 | -0.4426 | -0.4390 | -0.4299 | 0.0127 | acceptor | a0001c0001t0001 | HG00323.hp1 HG01106.hp2 |
NA18974.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69008235 | - | 24 | 0.5461 | 0.5461 | 0.4973 | 0.0488 | donor | a0001c0001t0001 | HG00323.hp1 HG01106.hp2 |
NA18954.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 69007759 | - | 25 | -0.5244 | -0.5152 | -0.5077 | 0.0168 | acceptor | a0001c0001t0001 | NA18974.hp1 | HG01175.hp2 HG02572.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 69007872 | - | 25 | 0.4254 | 0.4248 | 0.4118 | 0.0135 | donor | a0001c0001t0001 | NA18986.hp1 | NA18954.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68995895 | - | 26 | -0.9881 | -0.9880 | -0.9868 | 0.0013 | acceptor | a0001c0001t0001 | HG02735.hp1 | HG01081.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68996014 | - | 26 | 0.9504 | 0.9480 | 0.9346 | 0.0158 | donor | a0001c0001t0001 | NA19075.hp1 | HG06807.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68993016 | - | 27 | -0.7445 | -0.7400 | -0.7377 | 0.0068 | acceptor | a0001c0001t0001 | HG02083.hp1 | NA19010.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68993084 | - | 27 | 0.8642 | 0.8538 | 0.8502 | 0.0140 | donor | a0001c0001t0001 | HG03540.hp2 | HG02074.hp1 HG02135.hp2 NA18989.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68992175 | - | 28 | -0.7013 | -0.6967 | -0.6926 | 0.0087 | acceptor | a0001c0001t0001 | HG04204.hp2 | HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68992266 | - | 28 | 0.6144 | 0.6120 | 0.6092 | 0.0052 | donor | a0001c0001t0001 | HG02074.hp1 HG02135.hp2 NA18989.hp2 |
HG04204.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68990837 | - | 29 | -0.9927 | -0.9926 | -0.9920 | 0.0007 | acceptor | a0001c0001t0001 | NA19060.hp2 | NA18987.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68990957 | - | 29 | 0.9943 | 0.9939 | 0.9939 | 0.0004 | donor | a0001c0001t0001 | HG01884.hp2 NA18987.hp1 NA19030.hp2 |
HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68989813 | - | 30 | -0.6805 | -0.6661 | -0.6456 | 0.0349 | acceptor | a0001c0001t0001 | HG01884.hp2 NA19030.hp2 |
HG00438.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68989930 | - | 30 | 0.8099 | 0.7973 | 0.7908 | 0.0191 | donor | a0001c0001t0001 | NA19083.hp1 | HG03831.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68989027 | - | 31 | -0.9897 | -0.9790 | -0.9756 | 0.0141 | acceptor | a0001c0001t0001 | HG00438.hp2 | HG03704.hp1 NA18747.hp2 NA18969.hp2 NA18990.hp2 NA19065.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68989118 | - | 31 | 0.9695 | 0.9315 | 0.9257 | 0.0438 | donor | a0001c0001t0001 | NA18987.hp1 | HG02071.hp1 HG03831.hp2 NA19060.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68986164 | - | 32 | -0.8065 | -0.8044 | -0.8005 | 0.0060 | acceptor | a0001c0001t0001 | HG03540.hp2 | HG03490.hp1 HG03492.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68986324 | - | 32 | 0.8729 | 0.8595 | 0.8584 | 0.0145 | donor | a0001c0001t0001 | HG00438.hp2 | NA18946.hp1 NA18957.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68985053 | - | 33 | -0.9974 | -0.9971 | -0.9971 | 0.0003 | acceptor | a0001c0001t0001 | NA19009.hp1 NA19067.hp2 |
HG03540.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68985128 | - | 33 | 0.9968 | 0.9967 | 0.9967 | 0.0001 | donor | a0001c0001t0001 | HG00438.hp2 | NA19090.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68984885 | - | 34 | -0.9063 | -0.9052 | -0.8943 | 0.0120 | acceptor | a0001c0001t0001 | HG03540.hp2 | NA19009.hp1 NA19067.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68984979 | - | 34 | 0.8193 | 0.8180 | 0.7977 | 0.0217 | donor | a0001c0001t0001 | HG00438.hp2 | NA19009.hp1 NA19067.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68984056 | - | 35 | -0.9984 | -0.9984 | -0.9983 | 0.0001 | acceptor | a0001c0001t0001 | NA18949.hp2 NA18954.hp2 NA18967.hp1 NA18969.hp2 NA19030.hp2 |
NA19009.hp1 NA19067.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68984175 | - | 35 | 0.9965 | 0.9965 | 0.9964 | 0.0001 | donor | a0001c0001t0001 | NA19056.hp2 | NA19009.hp1 NA19067.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68983709 | - | 36 | -0.9980 | -0.9980 | -0.9979 | 0.0001 | acceptor | a0001c0001t0001 | NA19056.hp2 | NA18946.hp1 NA18957.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68983849 | - | 36 | 0.9969 | 0.9969 | 0.9968 | 0.0001 | donor | a0001c0001t0001 | NA18954.hp2 | NA19009.hp1 NA19067.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68982562 | - | 37 | -0.9494 | -0.9487 | -0.9453 | 0.0040 | acceptor | a0001c0001t0001 | HG02071.hp1 | NA19030.hp2 | ABCA9 | chr17 | 68969488 | 69065927 |
| 68982641 | - | 37 | 0.9695 | 0.9688 | 0.9650 | 0.0045 | donor | a0001c0001t0001 | HG02071.hp1 | HG00323.hp2 HG02735.hp1 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68976135 | - | 38 | -0.9428 | -0.9368 | -0.9333 | 0.0095 | acceptor | a0001c0001t0001 | HG00323.hp2 | HG00323.hp1 HG01106.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68976190 | - | 38 | 0.9288 | 0.9265 | 0.9231 | 0.0057 | donor | a0001c0001t0001 | HG00323.hp2 | HG00323.hp1 HG01106.hp2 |
ABCA9 | chr17 | 68969488 | 69065927 |
| 68976013 | - | 39 | 0.9870 | 0.9861 | 0.9860 | 0.0010 | donor | a0001c0001t0001 | HG00323.hp2 | NA19058.hp1 | ABCA9 | chr17 | 68969488 | 69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69045467
|
c.305-131A>G | Corneal resistance factor0.06025 | a0001a0002a0014a0015a0021 | a0001c0001a0001c0007a0001c0029a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0011a0001c0001t0012others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0166a0001c0001t0001g0168a0001c0001t0001g0169others(83): Show | HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
Fine-mapping and cell-specific enrichment at corne others(74): Show |
76,029 white-British ancestry individuals/10,130 n others(37): Show |
ABCA9 | rs9789083-T | - | MODIFIER | chr17 | T | C | |
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chr17:69064731
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c.-3879A>G | Calcium levels0.0467 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
313,387 European ancestry individuals, 5,576 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:69064731
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c.-3879A>G | Total cholesterol levels0.0903 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,508 European ancestry individuals, 6,014 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:69064731
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c.-3879A>G | Serum albumin levels0.1135 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
313,032 European ancestry individuals, 5,573 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:69064731
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c.-3879A>G | Apolipoprotein A1 levels0.0404 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
311,601 European ancestry individuals, 5,550 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:69064731
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c.-3879A>G | Apolipoprotein B levels0.0942 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
340,860 European ancestry individuals, 5,962 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:68994417
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c.3556-1333G>A | Apolipoprotein B levels0.0346 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0209a0001c0001t0001g0229a0001c0001t0012g0234 | HG01109.hp1 HG02486.hp1 HG02735.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
340,860 European ancestry individuals, 5,962 Afric others(64): Show |
NR | ABCA9, ABCA9-AS1 | rs76810866-T | - | MODIFIER | chr17 | C | T |
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chr17:69064731
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c.-3879A>G | Low density lipoprotein cholesterol levelsothers(8): Show | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
341,875 European ancestry individuals, 6,003 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:68994417
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c.3556-1333G>A | Low density lipoprotein cholesterol levelsothers(8): Show | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0209a0001c0001t0001g0229a0001c0001t0012g0234 | HG01109.hp1 HG02486.hp1 HG02735.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
341,875 European ancestry individuals, 6,003 Afric others(64): Show |
NR | ABCA9, ABCA9-AS1 | rs76810866-T | - | MODIFIER | chr17 | C | T |
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chr17:69064731
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c.-3879A>G | Serum total protein levels0.0455 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
313,032 European ancestry individuals, 5,573 Afric others(64): Show |
NR | ABCA9 - ABCA6 | rs113408695-C | - | MODIFIER | chr17 | T | C |
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chr17:69045467
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c.305-131A>G | Corneal resistance factor (MTAG)0.027199 | a0001a0002a0014a0015a0021 | a0001c0001a0001c0007a0001c0029a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0011a0001c0001t0012others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0166a0001c0001t0001g0168a0001c0001t0001g0169others(83): Show | HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
Association of Novel Loci With Keratoconus Suscept others(122): Show |
123,734 European ancestry individuals/ | ABCA9 | rs9789083-T | - | MODIFIER | chr17 | T | C | |
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chr17:69064731
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c.-3879A>G | CST6/GAL protein level ratio0.517604 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | HG01175.hp2 HG02572.hp1 |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | ABCA9 - ABCA6 | rs113408695-? | - | MODIFIER | chr17 | T | C |