| geneid | 10351 |
|---|---|
| ensemblid | ENSG00000141338.15 |
| hgncid | 38 |
| symbol | ABCA8 |
| name | ATP binding cassette subfamily A member 8 |
| refseq_nuc | NM_001288985.2 |
| refseq_prot | NP_001275914.1 |
| ensembl_nuc | ENST00000586539.6 |
| ensembl_prot | ENSP00000467271.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 68867289 |
| end | 68955392 |
| strand | - |
| ver | v1.2 |
| region | chr17:68867289-68955392 |
| region5000 | chr17:68862289-68960392 |
| regionname0 | ABCA8_chr17_68867289_68955392 |
| regionname5000 | ABCA8_chr17_68862289_68960392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:68876661
|
G | C | 0.8321 | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(225): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0003a0001c0004others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(43): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(224): Show | 228 | 274 | 0 | ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 34/40 | c.4242C>G | p.Pro1414Pro | 4582/6002 | 4242/4866 | 1414/1621 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA8 | 1/1 | a0001 | 1621 | 199 | 37 | 28 | 96 | 11 | 25 | subcellular location copy fasta | chr17 | 68862289 | 68960392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA8 | 0/1 | c0001 | 4866 | 113 | 12 | 17 | 64 | 4 | 15 | copy fasta | chr17 | 68862289 | 68960392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA8 | 0/1 | a0001c0001 | 113 | 12 | 17 | 64 | 4 | 15 | 4866 | copy fasta | chr17 | 68862289 | 68960392 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 68955219 | - | 1 | -0.3713 | -0.0932 | -0.0806 | 0.2907 | acceptor | a0001c0001 | HG04204.hp1 | NA18952.hp1 NA19060.hp2 NA19087.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68949312 | - | 2 | -0.4809 | -0.4691 | -0.3210 | 0.1600 | acceptor | a0001c0001 | HG00423.hp2 HG00741.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 others(5): Show |
HG00597.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68949472 | - | 2 | 0.4200 | 0.4136 | 0.2884 | 0.1316 | donor | a0001c0001 | HG00423.hp2 HG00741.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 others(5): Show |
HG00597.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68941939 | - | 3 | -0.7290 | -0.7213 | -0.6465 | 0.0825 | acceptor | a0001c0001 | NA18747.hp2 | NA18951.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68942039 | - | 3 | 0.5789 | 0.5641 | 0.5025 | 0.0764 | donor | a0001c0001 | HG01258.hp2 HG02683.hp1 HG04184.hp2 |
NA18951.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68940758 | - | 4 | -0.9957 | -0.9951 | -0.9948 | 0.0009 | acceptor | a0001c0001 | HG03239.hp1 | HG00423.hp2 HG00741.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 others(6): Show |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68940962 | - | 4 | 0.9684 | 0.9681 | 0.9665 | 0.0018 | donor | a0001c0001 | HG02647.hp2 | HG03239.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68936951 | - | 5 | -0.9624 | -0.9479 | -0.9335 | 0.0289 | acceptor | a0001c0001 | NA19000.hp1 | NA18951.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68937115 | - | 5 | 0.8854 | 0.8742 | 0.8453 | 0.0401 | donor | a0001c0001 | NA19000.hp1 | HG03516.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68933168 | - | 6 | -0.8846 | -0.8286 | -0.7985 | 0.0861 | acceptor | a0001c0001 | HG02647.hp2 | HG01978.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68933271 | - | 6 | 0.8722 | 0.8502 | 0.8176 | 0.0546 | donor | a0001c0001 | HG02055.hp2 | HG01071.hp1 NA19088.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68932288 | - | 7 | -0.9416 | -0.9163 | -0.8971 | 0.0444 | acceptor | a0001c0001 | NA18951.hp1 | HG00597.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68932514 | - | 7 | 0.8398 | 0.8020 | 0.7759 | 0.0639 | donor | a0001c0001 | NA18961.hp2 NA19000.hp1 |
HG00597.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68929561 | - | 8 | -0.9919 | -0.9894 | -0.9887 | 0.0032 | acceptor | a0001c0001 | HG02647.hp2 | HG03579.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68929702 | - | 8 | 0.9889 | 0.9860 | 0.9789 | 0.0100 | donor | a0001c0001 | NA19043.hp2 | HG02615.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68929049 | - | 9 | -0.9338 | -0.9301 | -0.9224 | 0.0114 | acceptor | a0001c0001 | HG02602.hp2 HG02698.hp2 |
HG01071.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68929234 | - | 9 | 0.9555 | 0.9529 | 0.9490 | 0.0065 | donor | a0001c0001 | HG02602.hp2 HG02698.hp2 |
HG02055.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68927916 | - | 10 | -0.9940 | -0.9934 | -0.9920 | 0.0020 | acceptor | a0001c0001 | HG01978.hp1 | HG03579.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68928063 | - | 10 | 0.9901 | 0.9895 | 0.9886 | 0.0015 | donor | a0001c0001 | HG00741.hp2 | HG01099.hp1 HG01167.hp1 homoSapiens_chm13v2.hp1 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68924701 | - | 11 | -0.9938 | -0.9930 | -0.9921 | 0.0016 | acceptor | a0001c0001 | NA19003.hp2 | HG02602.hp2 HG02698.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68924869 | - | 11 | 0.9901 | 0.9889 | 0.9876 | 0.0025 | donor | a0001c0001 | NA19030.hp2 | NA19003.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68922242 | - | 12 | -0.9904 | -0.9853 | -0.9625 | 0.0279 | acceptor | a0001c0001 | HG01071.hp1 NA18961.hp2 |
HG01952.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68922300 | - | 12 | 0.9923 | 0.9869 | 0.9745 | 0.0178 | donor | a0001c0001 | NA18950.hp1 | HG00323.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68921382 | - | 13 | -0.9968 | -0.9965 | -0.9960 | 0.0009 | acceptor | a0001c0001 | NA19010.hp1 | HG01978.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68921492 | - | 13 | 0.9953 | 0.9946 | 0.9936 | 0.0017 | donor | a0001c0001 | NA19070.hp2 | NA19003.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68919301 | - | 14 | -0.9985 | -0.9983 | -0.9982 | 0.0003 | acceptor | a0001c0001 | HG02602.hp2 HG02698.hp2 |
HG00741.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68919476 | - | 14 | 0.9995 | 0.9994 | 0.9993 | 0.0001 | donor | a0001c0001 | HG01258.hp2 HG03239.hp1 |
HG00423.hp2 HG00741.hp2 HG01952.hp1 NA18987.hp1 NA19000.hp1 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68918427 | - | 15 | -0.9834 | -0.9821 | -0.9791 | 0.0043 | acceptor | a0001c0001 | HG01106.hp2 | HG02615.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68918546 | - | 15 | 0.9179 | 0.9113 | 0.9048 | 0.0131 | donor | a0001c0001 | NA19065.hp2 | HG02055.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68918047 | - | 16 | -0.9794 | -0.9778 | -0.9757 | 0.0037 | acceptor | a0001c0001 | NA18950.hp1 | HG01106.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68918185 | - | 16 | 0.9995 | 0.9995 | 0.9995 | 0.0001 | donor | a0001c0001 | HG03017.hp1 HG03490.hp1 HG04199.hp1 NA18948.hp1 NA18952.hp1 others(4): Show |
HG01106.hp2 HG02615.hp1 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68917361 | - | 17 | -0.9971 | -0.9959 | -0.9947 | 0.0024 | acceptor | a0001c0001 | NA18941.hp2 | NA18948.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68917451 | - | 17 | 0.9964 | 0.9944 | 0.9931 | 0.0034 | donor | a0001c0001 | NA18941.hp2 | NA18948.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68907740 | - | 18 | -0.9722 | -0.9660 | -0.9509 | 0.0214 | acceptor | a0001c0001 | HG02451.hp1 | NA19043.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68907879 | - | 18 | 0.9642 | 0.9194 | 0.8883 | 0.0759 | donor | a0001c0001 | HG02615.hp1 | HG02647.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68906044 | - | 19 | -0.9940 | -0.9932 | -0.9930 | 0.0011 | acceptor | a0001c0001 | HG02615.hp1 | NA18961.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68906163 | - | 19 | 0.9954 | 0.9951 | 0.9945 | 0.0010 | donor | a0001c0001 | HG02451.hp1 | NA18950.hp1 NA18975.hp2 NA18980.hp2 NA18986.hp1 NA19001.hp1 others(1): Show |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68903301 | - | 20 | -0.9794 | -0.9694 | -0.9691 | 0.0102 | acceptor | a0001c0001 | NA20752.hp2 | NA18948.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68903499 | - | 20 | 0.9906 | 0.9832 | 0.9822 | 0.0084 | donor | a0001c0001 | NA20129.hp1 | NA18948.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68902713 | - | 21 | -0.8865 | -0.8431 | -0.8409 | 0.0456 | acceptor | a0001c0001 | HG00408.hp2 NA18612.hp2 |
HG01074.hp1 HG01168.hp1 HG01517.hp2 NA18957.hp2 NA18959.hp2 others(1): Show |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68902879 | - | 21 | 0.8417 | 0.8264 | 0.7840 | 0.0577 | donor | a0001c0001 | NA20752.hp2 | NA18975.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68894880 | - | 22 | -0.9960 | -0.9953 | -0.9952 | 0.0007 | acceptor | a0001c0001 | HG04199.hp1 HG04204.hp1 |
HG01099.hp1 HG01167.hp1 HG01361.hp1 NA21309.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68895013 | - | 22 | 0.9807 | 0.9792 | 0.9762 | 0.0044 | donor | a0001c0001 | NA18961.hp1 | HG02055.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68894173 | - | 23 | -0.9622 | -0.9558 | -0.9505 | 0.0116 | acceptor | a0001c0001 | NA18950.hp1 NA18980.hp2 NA18986.hp1 NA19001.hp1 NA19003.hp2 others(1): Show |
HG04199.hp1 HG04204.hp1 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68894310 | - | 23 | 0.9535 | 0.9463 | 0.9310 | 0.0225 | donor | a0001c0001 | HG03516.hp2 | NA18950.hp1 NA18980.hp2 NA18986.hp1 NA19001.hp1 NA19003.hp2 others(1): Show |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68891489 | - | 24 | -0.9975 | -0.9973 | -0.9973 | 0.0002 | acceptor | a0001c0001 | HG02647.hp2 HG03516.hp2 |
HG02683.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68891596 | - | 24 | 0.9971 | 0.9969 | 0.9965 | 0.0006 | donor | a0001c0001 | NA18961.hp2 | HG02738.hp2 NA18612.hp1 NA18987.hp1 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68887336 | - | 25 | -0.8752 | -0.8522 | -0.8390 | 0.0362 | acceptor | a0001c0001 | HG03017.hp1 HG03490.hp1 NA18953.hp2 NA18964.hp1 NA18978.hp1 |
NA18951.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68887506 | - | 25 | 0.9386 | 0.9235 | 0.9106 | 0.0280 | donor | a0001c0001 | NA18994.hp1 | HG01258.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68887017 | - | 26 | -0.9807 | -0.9800 | -0.9778 | 0.0029 | acceptor | a0001c0001 | HG01258.hp2 | NA18747.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68887130 | - | 26 | 0.9807 | 0.9777 | 0.9713 | 0.0093 | donor | a0001c0001 | HG02055.hp2 HG02451.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp2 |
HG02615.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68885196 | - | 27 | -0.9959 | -0.9956 | -0.9953 | 0.0006 | acceptor | a0001c0001 | HG03491.hp1 | NA18975.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68885315 | - | 27 | 0.9972 | 0.9970 | 0.9969 | 0.0004 | donor | a0001c0001 | HG03491.hp1 | HG03017.hp1 HG03490.hp1 HG03516.hp2 NA18953.hp2 NA18964.hp1 others(2): Show |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68884331 | - | 28 | -0.9796 | -0.9791 | -0.9778 | 0.0017 | acceptor | a0001c0001 | NA18950.hp1 NA18980.hp2 NA18986.hp1 NA19001.hp1 NA19003.hp2 others(1): Show |
NA18961.hp1 NA18975.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68884396 | - | 28 | 0.9620 | 0.9608 | 0.9596 | 0.0024 | donor | a0001c0001 | NA18986.hp1 | NA18975.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68883791 | - | 29 | -0.8096 | -0.8066 | -0.7964 | 0.0132 | acceptor | a0001c0001 | HG02615.hp1 | NA18999.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68883882 | - | 29 | 0.7783 | 0.7713 | 0.7496 | 0.0287 | donor | a0001c0001 | NA18994.hp1 | NA18999.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68882599 | - | 30 | -0.9979 | -0.9978 | -0.9978 | 0.0001 | acceptor | a0001c0001 | HG02615.hp1 | NA18999.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68882719 | - | 30 | 0.9851 | 0.9848 | 0.9833 | 0.0018 | donor | a0001c0001 | HG01071.hp1 | NA18961.hp1 NA18975.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68881863 | - | 31 | -0.7071 | -0.6989 | -0.6982 | 0.0089 | acceptor | a0001c0001 | HG01071.hp1 | HG02451.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp2 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68881980 | - | 31 | 0.9247 | 0.9236 | 0.9220 | 0.0027 | donor | a0001c0001 | HG02615.hp1 | HG03239.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68881120 | - | 32 | -0.8034 | -0.7998 | -0.7949 | 0.0085 | acceptor | a0001c0001 | HG00741.hp2 | HG00408.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68881211 | - | 32 | 0.8200 | 0.8049 | 0.7939 | 0.0262 | donor | a0001c0001 | HG01071.hp1 | HG00408.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68877519 | - | 33 | -0.8494 | -0.8102 | -0.7950 | 0.0544 | acceptor | a0001c0001 | HG01433.hp2 | HG00408.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68877679 | - | 33 | 0.9287 | 0.8994 | 0.8932 | 0.0354 | donor | a0001c0001 | HG01433.hp2 | NA18973.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68876628 | - | 34 | -0.9954 | -0.9951 | -0.9755 | 0.0199 | acceptor | a0001c0001 | NA18950.hp1 | HG01433.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68876703 | - | 34 | 0.9963 | 0.9962 | 0.0007 | 0.9956 | donor | a0001c0001 | NA18973.hp1 | HG01433.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68876460 | - | 35 | -0.9558 | -0.9554 | -0.9468 | 0.0091 | acceptor | a0001c0001 | HG00408.hp1 | HG01433.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68876554 | - | 35 | 0.9644 | 0.9641 | 0.9621 | 0.0023 | donor | a0001c0001 | NA18950.hp1 | HG01433.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68875614 | - | 36 | -0.7811 | -0.7690 | -0.7689 | 0.0123 | acceptor | a0001c0001 | HG01433.hp2 | NA18973.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68875733 | - | 36 | 0.6703 | 0.6700 | 0.6409 | 0.0294 | donor | a0001c0001 | HG00408.hp1 | HG01433.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68875260 | - | 37 | -0.9966 | -0.9966 | -0.9964 | 0.0002 | acceptor | a0001c0001 | NA19002.hp2 | HG00597.hp2 HG01258.hp2 HG03491.hp1 |
ABCA8 | chr17 | 68862289 | 68960392 |
| 68875400 | - | 37 | 0.9914 | 0.9913 | 0.9905 | 0.0008 | donor | a0001c0001 | HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00741.hp2 others(47): Show |
HG01433.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68869700 | - | 38 | -0.9036 | -0.8920 | -0.8879 | 0.0158 | acceptor | a0001c0001 | HG01496.hp2 | HG04184.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68869779 | - | 38 | 0.9837 | 0.9820 | 0.9815 | 0.0022 | donor | a0001c0001 | HG04184.hp1 | NA18971.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68868301 | - | 39 | -0.8067 | -0.7996 | -0.7943 | 0.0123 | acceptor | a0001c0001 | HG01496.hp2 | HG03516.hp2 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68868356 | - | 39 | 0.8787 | 0.8669 | 0.8598 | 0.0189 | donor | a0001c0001 | NA18980.hp2 NA18986.hp1 NA19001.hp1 NA19003.hp2 NA19091.hp1 |
HG04184.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 68868183 | - | 40 | 0.8404 | 0.8327 | 0.8301 | 0.0103 | donor | a0001c0001 | HG01496.hp2 | HG04184.hp1 | ABCA8 | chr17 | 68862289 | 68960392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 68876704:splice 68876704:variant goto | c.4200-1G>C | 769926 | Benign | ABCA8:10351 | SO:0001574 splice_acceptor_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | HG01433.hp2 | HIGH | chr17 | C | G | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:68879153
|
c.4039-1474G>C | HDL cholesterol0.42 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(130): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(131): Show |
Biological, clinical and population relevance of 9 others(24): Show |
99,900 European ancestry individuals/ | ABCA8 | ABCA8 | rs4148008-G | - | MODIFIER | chr17 | C | G |
|
chr17:68879153
|
c.4039-1474G>C | HDL cholesterol0.028 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(130): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(131): Show |
Discovery and refinement of loci associated with l others(12): Show |
94,595 European ancestry individuals/93,982 Europe others(23): Show |
ABCA8 | ABCA8 | rs4148008-G | - | MODIFIER | chr17 | C | G |
|
chr17:68886325
|
c.3429+692A>C | Coronary artery disease0.0286 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(122): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 others(123): Show |
Identification of 64 Novel Genetic Loci Provides a others(71): Show |
88,192 cases, 162,544 controls/34,541 cases, 261,9 others(11): Show |
ABCA8 | ABCA8 | rs4148005-T | - | MODIFIER | chr17 | T | G |
|
chr17:68879153
|
c.4039-1474G>C | HDL cholesterol levels0.0067 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(130): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(131): Show |
Multi-ancestry genome-wide gene-smoking interactio others(80): Show |
up to 23,761 African ancestry individuals, 13,171 others(99): Show |
ABCA8 | rs4148008-C | - | MODIFIER | chr17 | C | G | |
|
chr17:68886325
|
c.3429+692A>C | HDL cholesterol levels0.0069 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(122): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 others(123): Show |
Multi-ancestry genome-wide gene-smoking interactio others(80): Show |
up to 23,761 African ancestry individuals, 13,171 others(99): Show |
ABCA8 | rs4148005-T | - | MODIFIER | chr17 | T | G | |
|
chr17:68903149
|
c.2597+152C>T | Metabolic syndrome0.00848168 | a0001a0002a0003a0006a0011others(1): Show | a0001c0001a0001c0003a0001c0050a0002c0006a0003c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001a0001c0003t0002a0001c0050t0001others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0052others(46): Show | HG00408.hp2 HG00544.hp1 HG01106.hp2 HG01346.hp2 HG01433.hp1 others(46): Show |
Multivariate genomic analysis of 5million people e others(82): Show |
1,384,348 European ancestry individuals/ | ABCA8 | rs4147997-? | - | MODIFIER | chr17 | G | A | |
|
chr17:68943333
|
c.-5-1294C>T | Serum levels of protein CAMP0.138794 | a0001a0002a0003a0006a0010others(5): Show | a0001c0001a0001c0002a0001c0004a0001c0017a0002c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0004t0001a0001c0017t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0013others(52): Show | HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00733.hp1 HG01069.hp2 others(52): Show |
A genome-wide association study of serum proteins others(41): Show |
5,367 Icelandic ancestry individuals/ | ABCA8 | rs1860446-G | - | MODIFIER | chr17 | G | A | |
|
chr17:68879153
|
c.4039-1474G>C | Serum levels of protein CAMP0.462785 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(130): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(131): Show |
A genome-wide association study of serum proteins others(41): Show |
5,367 Icelandic ancestry individuals/ | ABCA8 | rs4148008-G | - | MODIFIER | chr17 | C | G | |
|
chr17:68902274
|
c.2764+439C>A |
High density lipoprotein cholesterol levels others(9): Show |
a0001a0002a0003a0006a0011others(2): Show | a0001c0001a0001c0003a0001c0050a0002c0006a0003c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001a0001c0003t0002a0001c0050t0001others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0052others(48): Show | HG00408.hp2 HG00544.hp1 HG01106.hp2 HG01346.hp2 HG01433.hp1 others(48): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
313,372 European ancestry individuals, 5,573 Afric others(64): Show |
NR | ABCA8 | rs62087820-T | - | MODIFIER | chr17 | G | T |
|
chr17:68902274
|
c.2764+439C>A | Apolipoprotein A1 levels0.0239 | a0001a0002a0003a0006a0011others(2): Show | a0001c0001a0001c0003a0001c0050a0002c0006a0003c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001a0001c0003t0002a0001c0050t0001others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0052others(48): Show | HG00408.hp2 HG00544.hp1 HG01106.hp2 HG01346.hp2 HG01433.hp1 others(48): Show |
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 | ABCA8 | rs62087820-T | - | MODIFIER | chr17 | G | T |
|
chr17:68886325
|
c.3429+692A>C | Kidney injury molecule 1 levels0.0912 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(122): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 others(123): Show |
Genomic and drug target evaluation of 90 cardiovas others(37): Show |
21,758 European ancestry individuals/9,173 individ others(4): Show |
ABCA8 | rs4148005-T | - | MODIFIER | chr17 | T | G | |
|
chr17:68949204
|
c.-6+108T>C | C-X-C motif chemokine 16 levels0.1006 | a0001a0002a0025 | a0001c0001a0001c0002a0001c0004a0001c0048a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001a0001c0048t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0172others(12): Show | HG00423.hp2 HG00741.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 others(12): Show |
Genomic and drug target evaluation of 90 cardiovas others(37): Show |
21,758 European ancestry individuals/9,173 individ others(4): Show |
ABCA8, ABCA9-AS1 | rs113120414-A | - | MODIFIER | chr17 | A | G | |
|
chr17:68905225
|
c.2398+819A>G | HDL cholesterol levels0.028 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(38): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(129): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 others(130): Show |
Association analyses of East Asian individuals and others(119): Show |
34,930 East Asian ancestry individuals, 187,167 Eu others(62): Show |
ABCA8 | ABCA8 | rs1373067-T | - | MODIFIER | chr17 | T | C |
|
chr17:68902274
|
c.2764+439C>A | Serum albumin levels0.0215 | a0001a0002a0003a0006a0011others(2): Show | a0001c0001a0001c0003a0001c0050a0002c0006a0003c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001a0001c0003t0002a0001c0050t0001others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0052others(48): Show | HG00408.hp2 HG00544.hp1 HG01106.hp2 HG01346.hp2 HG01433.hp1 others(48): Show |
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 | ABCA8 | rs62087820-T | - | MODIFIER | chr17 | G | T |
|
chr17:68923209
|
c.1443-909A>T | Femur bone mineral density x serum urate levels interactionothers(26): Show | a0001a0002a0007a0015a0028 | a0001c0001a0001c0002a0001c0004a0002c0006a0007c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001a0002c0006t0001a0007c0010t0001others(2): Show | a0001c0001t0001g0218a0001c0001t0001g0225a0001c0001t0001g0229a0001c0002t0001g0203a0001c0004t0001g0241others(4): Show | HG00140.hp1 HG00280.hp1 HG00741.hp1 HG02486.hp1 HG03225.hp1 others(4): Show |
Evaluate the effects of serum urate level on bone others(90): Show |
2,225 men, 2,350 women/ | ABCA8 | ABCA8 | rs201074731-? | - | MODIFIER | chr17 | T | A |
|
chr17:68910737
|
c.2139-2858T>C | Cognitive function0.73 | a0001a0022a0025 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0023others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001a0001c0005t0001a0001c0023t0001others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0268a0001c0002t0001g0184others(9): Show | HG00639.hp2 HG01884.hp2 HG02109.hp2 HG02602.hp2 HG02698.hp2 others(9): Show |
Genome-wide association study of population-standa others(75): Show |
2,211 Sub-Saharan African ancestry individuals/ | ABCA8 | rs73998577-G | - | MODIFIER | chr17 | A | G | |
|
chr17:68931279
|
c.797+1009G>A | Antibacterial protein LL-37 levels0.17 | a0001a0002a0003a0006a0010others(5): Show | a0001c0001a0001c0002a0001c0004a0001c0017a0002c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0004t0001a0001c0017t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0013others(60): Show | HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00733.hp1 others(60): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABCA8 | rs11656365-T | - | MODIFIER | chr17 | C | T | |
|
chr17:68903569
|
c.2399-70G>C | HDL cholesterol levels0.36 | a0001a0003a0007a0008a0009others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0017others(14): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001a0001c0003t0001a0001c0003t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(116): Show | HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 others(116): Show |
Dyslipidaemia-Genotype Interactions with Nutrient others(42): Show |
58,701 Korean ancestry individuals/ | ABCA8 | rs3744494-C | - | MODIFIER | chr17 | C | G | |
|
chr17:68949204
|
c.-6+108T>C | LDL (weighted GWA)0.051395 | a0001a0002a0025 | a0001c0001a0001c0002a0001c0004a0001c0048a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001a0001c0048t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0172others(12): Show | HG00423.hp2 HG00741.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 others(12): Show |
Participation bias in the UK Biobank distorts gene others(41): Show |
97,011 European ancestry individuals/ | ABCA8, ABCA9-AS1 | rs113120414-G | - | MODIFIER | chr17 | A | G | |
|
chr17:68917795
|
c.2047+252G>A | CXCL12 protein levels0.15009312 | a0001a0010a0017 | a0001c0001a0001c0002a0001c0004a0001c0048a0010c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0004t0001a0001c0048t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0080others(11): Show | HG00140.hp2 HG00438.hp2 HG01168.hp2 HG02559.hp2 HG02965.hp2 others(11): Show |
The genomic architecture of circulating cytokine l others(57): Show |
41,557 European ancestry individuals/ | ABCA8 | rs4147990-? | - | MODIFIER | chr17 | C | T | |
|
chr17:68949204
|
c.-6+108T>C | LDL (standard GWA)0.046607 | a0001a0002a0025 | a0001c0001a0001c0002a0001c0004a0001c0048a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001a0001c0048t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0172others(12): Show | HG00423.hp2 HG00741.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 others(12): Show |
Participation bias in the UK Biobank distorts gene others(41): Show |
269,545 European ancestry individuals/ | ABCA8, ABCA9-AS1 | rs113120414-G | - | MODIFIER | chr17 | A | G | |
|
chr17:68905225
|
c.2398+819A>G | Height0.0045 | a0001a0002a0003a0004a0005others(17): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0002others(38): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0045others(129): Show | HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 others(130): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABCA8 | rs1373067-C | - | MODIFIER | chr17 | T | C |