| geneid | 19 |
|---|---|
| ensemblid | ENSG00000165029.17 |
| hgncid | 29 |
| symbol | ABCA1 |
| name | ATP binding cassette subfamily A member 1 |
| refseq_nuc | NM_005502.4 |
| refseq_prot | NP_005493.2 |
| ensembl_nuc | ENST00000374736.8 |
| ensembl_prot | ENSP00000363868.3 |
| mane_status | MANE Select |
| chr | chr9 |
| start | 104781006 |
| end | 104928155 |
| strand | - |
| ver | v1.2 |
| region | chr9:104781006-104928155 |
| region5000 | chr9:104776006-104933155 |
| regionname0 | ABCA1_chr9_104781006_104928155 |
| regionname5000 | ABCA1_chr9_104776006_104933155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr9:104826974
|
C | T | 0.0975 | missense_variant | MODERATE | HG00741.hp2 HG01081.hp2 HG01099.hp2 others(28): Show |
a0008a0010a0017others(3): Show | a0008c0006a0008c0047a0008c0048others(9): Show | a0008c0006t0001a0008c0006t0003a0008c0006t0005others(21): Show | a0008c0006t0001g0087a0008c0006t0003g0187a0008c0006t0005g0063others(28): Show | 31 | 318 | 0 | ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 16/50 | c.2311G>A | p.Val771Met | 2624/10408 | 2311/6786 | 771/2261 | ||
|
chr9:104858586
|
C | T | 0.5377 | missense_variant | MODERATE | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(168): Show |
a0002a0003a0005others(17): Show | a0002c0011a0002c0015a0002c0017others(63): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(117): Show | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263others(168): Show | 171 | 318 | 0 | ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/50 | c.656G>A | p.Arg219Lys | 969/10408 | 656/6786 | 219/2261 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr9:104816197
|
C | T | 0.0660 | synonymous_variant | LOW | HG01884.hp2 HG01891.hp2 HG01952.hp2 others(18): Show |
a0002a0004a0005others(3): Show | a0002c0017a0002c0024a0002c0032others(11): Show | a0002c0017t0002a0002c0017t0015a0002c0017t0026others(13): Show | a0002c0017t0002g0271a0002c0017t0015g0101a0002c0017t0026g0163others(18): Show | 21 | 318 | 0 | ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 25/50 | c.3684G>A | p.Arg1228Arg | 3997/10408 | 3684/6786 | 1228/2261 | ||
|
chr9:104840385
|
C | T | 0.1667 | synonymous_variant | LOW | HG00642.hp1 HG00741.hp2 HG01081.hp2 others(50): Show |
a0002a0004a0005others(8): Show | a0002c0046a0004c0087a0004c0112others(22): Show | a0002c0046t0002a0004c0087t0009a0004c0112t0005others(38): Show | a0002c0046t0002g0154a0004c0087t0009g0118a0004c0112t0005g0098others(50): Show | 53 | 318 | 0 | ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/50 | c.948G>A | p.Gly316Gly | 1261/10408 | 948/6786 | 316/2261 | ||
|
chr9:104861748
|
C | T | 0.4654 | synonymous_variant | LOW | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(145): Show |
a0001a0002a0003others(18): Show | a0001c0035a0002c0011a0002c0017others(47): Show | a0001c0035t0004a0001c0035t0009a0002c0011t0004others(97): Show | a0001c0035t0004g0011a0001c0035t0009g0071a0002c0011t0004g0112others(145): Show | 148 | 318 | 0 | ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 6/50 | c.474G>A | p.Leu158Leu | 787/10408 | 474/6786 | 158/2261 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA1 | 0/0 | a0008 | 2261 | 14 | 5 | 2 | 5 | 0 | 2 | subcellular location copy fasta | chr9 | 104776006 | 104933155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA1 | 0/0 | c0047 | 6786 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | chr9 | 104776006 | 104933155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA1 | 0/0 | a0008c0047 | 1 | 1 | 0 | 0 | 0 | 0 | 6786 | copy fasta | chr9 | 104776006 | 104933155 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 104927935 | - | 1 | -0.6096 | -0.6096 | -0.6096 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104903614 | - | 2 | -0.9940 | -0.9940 | -0.9940 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104903771 | - | 2 | 0.9895 | 0.9895 | 0.9895 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104889102 | - | 3 | -0.9923 | -0.9923 | -0.9923 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104889195 | - | 3 | 0.9899 | 0.9899 | 0.9899 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104884427 | - | 4 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104884568 | - | 4 | 0.9937 | 0.9937 | 0.9937 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104883039 | - | 5 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104883157 | - | 5 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104861679 | - | 6 | -0.9962 | -0.9962 | -0.9962 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104861800 | - | 6 | 0.9889 | 0.9889 | 0.9889 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104858522 | - | 7 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104858698 | - | 7 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104845477 | - | 8 | -0.9949 | -0.9949 | -0.9949 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104845569 | - | 8 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104840279 | - | 9 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104840519 | - | 9 | 0.9914 | 0.9913 | 0.9914 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104837428 | - | 10 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104837567 | - | 10 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104836980 | - | 11 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104837096 | - | 11 | 0.9783 | 0.9783 | 0.9783 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104832574 | - | 12 | -0.9907 | -0.9907 | -0.9907 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104832771 | - | 12 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104831622 | - | 13 | -0.9972 | -0.9971 | -0.9972 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104831827 | - | 13 | 0.9910 | 0.9910 | 0.9910 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104830925 | - | 14 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104831101 | - | 14 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104828916 | - | 15 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104829138 | - | 15 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104826948 | - | 16 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104827169 | - | 16 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104825683 | - | 17 | -0.9940 | -0.9940 | -0.9940 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104825887 | - | 17 | 0.9578 | 0.9578 | 0.9578 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104824465 | - | 18 | -0.9992 | -0.9991 | -0.9992 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104824578 | - | 18 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104822496 | - | 19 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104822667 | - | 19 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104821375 | - | 20 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104821506 | - | 20 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104819927 | - | 21 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104820069 | - | 21 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104819586 | - | 22 | -0.9162 | -0.9162 | -0.9162 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104819723 | - | 22 | 0.8149 | 0.8149 | 0.8149 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104818663 | - | 23 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104818883 | - | 23 | 0.9958 | 0.9958 | 0.9958 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104817332 | - | 24 | -0.9821 | -0.9821 | -0.9821 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104817404 | - | 24 | 0.9824 | 0.9824 | 0.9824 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104816143 | - | 25 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104816345 | - | 25 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104814427 | - | 26 | -0.9902 | -0.9902 | -0.9902 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104814475 | - | 26 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104814118 | - | 27 | -0.9937 | -0.9937 | -0.9937 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104814231 | - | 27 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104812574 | - | 28 | -0.9588 | -0.9588 | -0.9588 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104812722 | - | 28 | 0.9771 | 0.9771 | 0.9771 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104810800 | - | 29 | -0.9961 | -0.9960 | -0.9961 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104810924 | - | 29 | 0.9416 | 0.9416 | 0.9416 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104809466 | - | 30 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104809564 | - | 30 | 0.9953 | 0.9953 | 0.9953 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104806241 | - | 31 | -0.9894 | -0.9894 | -0.9894 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104806430 | - | 31 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104804626 | - | 32 | -0.9259 | -0.9259 | -0.9259 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104804720 | - | 32 | 0.6091 | 0.6091 | 0.6091 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104803284 | - | 33 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104803316 | - | 33 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104802054 | - | 34 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104802159 | - | 34 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104800510 | - | 35 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104800584 | - | 35 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104799819 | - | 36 | -0.9930 | -0.9930 | -0.9930 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104799988 | - | 36 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104798421 | - | 37 | -0.9981 | -0.9980 | -0.9981 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104798598 | - | 37 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104796309 | - | 38 | -0.9932 | -0.9932 | -0.9932 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104796424 | - | 38 | 0.9957 | 0.9957 | 0.9957 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104796053 | - | 39 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104796197 | - | 39 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104794387 | - | 40 | -0.9752 | -0.9752 | -0.9752 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104794510 | - | 40 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104793171 | - | 41 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104793300 | - | 41 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104792786 | - | 42 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104792906 | - | 42 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104791936 | - | 43 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104791998 | - | 43 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104790922 | - | 44 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104791028 | - | 44 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104788426 | - | 45 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104788567 | - | 45 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104787920 | - | 46 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104788054 | - | 46 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104786873 | - | 47 | -0.9681 | -0.9681 | -0.9681 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104786976 | - | 47 | 0.9672 | 0.9672 | 0.9672 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104786298 | - | 48 | -0.9751 | -0.9750 | -0.9751 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104786390 | - | 48 | 0.9423 | 0.9423 | 0.9423 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104785396 | - | 49 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104785639 | - | 49 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 104784455 | - | 50 | 0.9906 | 0.9906 | 0.9906 | 0.0000 | donor | a0008c0047 | HG02965.hp1 | HG02965.hp1 | ABCA1 | chr9 | 104776006 | 104933155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr9:104885374
|
c.161-806C>T | HDL cholesterol0.02 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0005a0002c0011a0003c0002a0004c0008others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0043others(23): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0054a0001c0001t0043g0002others(25): Show | HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 others(25): Show |
Genetic variants influencing circulating lipid lev others(40): Show |
up to 17,723 European ancestry individuals/up to 3 others(82): Show |
ABCA1 | ABCA1 | rs3890182-G | - | MODIFIER | chr9 | G | A |
|
chr9:104885374
|
c.161-806C>T | HDL cholesterol0.1 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0005a0002c0011a0003c0002a0004c0008others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0043others(23): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0054a0001c0001t0043g0002others(25): Show | HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 others(25): Show |
Six new loci associated with blood low-density lip others(86): Show |
2,758 European ancestry individuals/18,554 Europea others(22): Show |
ABCA1 | ABCA1 | rs3890182-A | - | MODIFIER | chr9 | G | A |
|
chr9:104884939
|
c.161-371G>A | HDL cholesterol0.82 | a0001a0002a0003a0004a0005others(24): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(83): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(134): Show | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0003g0089a0001c0001t0003g0211a0001c0001t0003g0297others(162): Show | HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 others(162): Show |
Newly identified loci that influence lipid concent others(44): Show |
8,656 European ancestry individuals/11,437 Europea others(22): Show |
ABCA1 | ABCA1 | rs4149268-C | - | MODIFIER | chr9 | C | T |
|
chr9:104902020
|
c.66+1594G>A | Cholesterol, total2.24 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Biological, clinical and population relevance of 9 others(24): Show |
100,184 European ancestry individuals/ | ABCA1 | ABCA1 | rs1883025-T | - | MODIFIER | chr9 | C | T |
|
chr9:104902020
|
c.66+1594G>A | HDL cholesterol0.94 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Biological, clinical and population relevance of 9 others(24): Show |
99,900 European ancestry individuals/ | ABCA1 | ABCA1 | rs1883025-T | - | MODIFIER | chr9 | C | T |
|
chr9:104902020
|
c.66+1594G>A | HDL cholesterol0.08 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Common variants at 30 loci contribute to polygenic others(14): Show |
19,840 European ancestry individuals/Up to 20,623 others(29): Show |
ABCA1 | ABCA1 | rs1883025-T | - | MODIFIER | chr9 | C | T |
|
chr9:104894789
|
c.67-5594C>T | HDL cholesterol0.11 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0005a0002c0011a0002c0032a0002c0037others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0043others(30): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0054a0001c0001t0043g0002others(33): Show | HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 others(33): Show |
Loci influencing lipid levels and coronary heart d others(46): Show |
20,697 European ancestry individuals, 715 Orcadian others(13): Show |
ABCA1 | ABCA1 | rs3905000-G | - | MODIFIER | chr9 | G | A |
|
chr9:104902020
|
c.66+1594G>A | Metabolic syndrome0.1 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Genome-wide screen for metabolic syndrome suscepti others(136): Show |
2,637 European ancestry cases, 7,927 European ance others(14): Show |
ABCA1 | ABCA1 | rs1883025-T | - | MODIFIER | chr9 | C | T |
|
chr9:104903458
|
c.66+156C>T | Lipid metabolism phenotypes0.14 | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Genome-wide association study identifies multiple others(47): Show |
8,330 European ancestry individuals/ | ABCA1 | ABCA1 | rs2575876-? | - | MODIFIER | chr9 | G | A |
|
chr9:104902020
|
c.66+1594G>A | High density lipoprotein cholesterol levelsothers(7): Show | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
70,657 Japanese ancestry individuals/ | ABCA1 | ABCA1 | rs1883025-? | - | MODIFIER | chr9 | C | T |
|
chr9:104826853
|
c.2337+95T>A | High density lipoprotein cholesterol levelsothers(8): Show | a0002a0003a0004a0005a0006others(21): Show | a0002c0011a0002c0015a0002c0017a0002c0024a0002c0025others(69): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012a0002c0011t0020a0002c0015t0002others(133): Show | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0007g0119a0002c0011t0007g0247others(186): Show | HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(186): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
70,657 Japanese ancestry individuals/ | NR | ABCA1 | rs4149310-? | - | MODIFIER | chr9 | A | T |
|
chr9:104902020
|
c.66+1594G>A | HDL cholesterol0.03 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Contribution of Rare and Common Genetic Variants t others(102): Show |
3,681 individuals/ | ABCA1 | ABCA1 | rs1883025-A | - | MODIFIER | chr9 | C | T |
|
chr9:104826853
|
c.2337+95T>A | Metabolite levels | a0002a0003a0004a0005a0006others(21): Show | a0002c0011a0002c0015a0002c0017a0002c0024a0002c0025others(69): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012a0002c0011t0020a0002c0015t0002others(133): Show | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0007g0119a0002c0011t0007g0247others(186): Show | HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(186): Show |
Novel Loci for metabolic networks and multi-tissue others(53): Show |
6,608 European ancestry individuals/ | ABCA1 | ABCA1 | rs4149310-? | - | MODIFIER | chr9 | A | T |
|
chr9:104899461
|
c.66+4153T>G | HDL cholesterol0.086 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(95): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(117): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(117): Show |
The impact of low-frequency and rare variants on l others(12): Show |
up to 62,166 European ancestry individuals/ | ABCA1 | ABCA1 | rs2740488-A | - | MODIFIER | chr9 | A | C |
|
chr9:104899461
|
c.66+4153T>G | Cholesterol, total0.067 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(95): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(117): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(117): Show |
The impact of low-frequency and rare variants on l others(12): Show |
up to 62,166 European ancestry individuals/ | ABCA1 | ABCA1 | rs2740488-A | - | MODIFIER | chr9 | A | C |
|
chr9:104827286
|
c.2116-117G>A | Low high density lipoprotein cholesterol levelsothers(16): Show | a0008a0010a0017a0019a0020others(1): Show | a0008c0006a0008c0047a0008c0048a0008c0049a0008c0069others(7): Show | a0008c0006t0001a0008c0006t0003a0008c0006t0005a0008c0006t0006a0008c0006t0007others(19): Show | a0008c0006t0001g0087a0008c0006t0003g0187a0008c0006t0005g0063a0008c0006t0006g0057a0008c0006t0007g0111others(26): Show | HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01257.hp2 HG01261.hp2 others(26): Show |
A common variant association study reveals novel s others(66): Show |
1,747 Saudi Arab ancestry cases, 2,335 Saudi Arab others(81): Show |
ABCA1 | ABCA1 | rs7024300-T | - | MODIFIER | chr9 | C | T |
|
chr9:104899461
|
c.66+4153T>G | Advanced age-related macular degenerationothers(10): Show | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(95): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(117): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(117): Show |
A large genome-wide association study of age-relat others(77): Show |
16,144 European ancestry cases, 17,832 European an others(207): Show |
ABCA1 | ABCA1 | rs2740488-? | - | MODIFIER | chr9 | A | C |
|
chr9:104894789
|
c.67-5594C>T | Whole-brain volume (Alzheimer's disease interaction)others(17): Show | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0005a0002c0011a0002c0032a0002c0037others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0043others(30): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0054a0001c0001t0043g0002others(33): Show | HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 others(33): Show |
Genome-wide association with MRI atrophy measures others(54): Show |
434 European ancestry mild cognitive impairment ca others(85): Show |
ABCA1 | ABCA1 | rs3905000-? | - | MODIFIER | chr9 | G | A |
|
chr9:104839260
|
c.1054+1019C>T | HDL cholesterol0.088 | a0001a0002a0003a0004a0005others(28): Show | a0001c0092a0001c0108a0001c0109a0002c0011a0002c0015others(88): Show | a0001c0092t0012a0001c0108t0002a0001c0109t0001a0002c0011t0004a0002c0011t0007others(160): Show | a0001c0092t0012g0220a0001c0108t0002g0113a0001c0109t0001g0232a0002c0011t0004g0112a0002c0011t0004g0213others(221): Show | HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(221): Show |
Meta-analysis of lipid-traits in Hispanics identif others(85): Show |
4,383 Mexican ancestry individuals/7,876 Latin Ame others(106): Show |
ABCA1 | ABCA1 | rs2472386-A | - | MODIFIER | chr9 | G | A |
|
chr9:104902020
|
c.66+1594G>A | Cholesterol, total0.067 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Discovery and refinement of loci associated with l others(12): Show |
94,595 European ancestry individuals/93,982 Europe others(23): Show |
ABCA1 | ABCA1 | rs1883025-T | - | MODIFIER | chr9 | C | T |
|
chr9:104902020
|
c.66+1594G>A | HDL cholesterol0.07 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(61): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0012others(92): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0058others(111): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(111): Show |
Discovery and refinement of loci associated with l others(12): Show |
94,595 European ancestry individuals/93,982 Europe others(23): Show |
ABCA1 | ABCA1 | rs1883025-T | - | MODIFIER | chr9 | C | T |
|
chr9:104842226
|
c.814-1707G>A | Allergic rhinitis1.82 | a0002a0004a0005a0008a0009others(3): Show | a0002c0046a0004c0087a0005c0016a0008c0006a0008c0047others(8): Show | a0002c0046t0002a0004c0087t0009a0005c0016t0001a0005c0016t0011a0008c0006t0001others(22): Show | a0002c0046t0002g0154a0004c0087t0009g0118a0005c0016t0001g0009a0005c0016t0001g0010a0005c0016t0001g0049others(31): Show | HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 others(31): Show |
Integrated genome-wide association, coexpression n others(109): Show |
872 European ancestry cases, 1,193 Latino cases, 6 others(144): Show |
ABCA1 | ABCA1 | rs2472448-? | - | MODIFIER | chr9 | C | T |
|
chr9:104888893
|
c.160+209A>G | Metabolite levels0.28123182 | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0005a0002c0011a0003c0002a0004c0008others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0043others(16): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0054a0001c0001t0043g0002others(17): Show | HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp2 others(17): Show |
A genome-wide association study of the human metab others(34): Show |
2,076 European ancestry individuals/ | NIPSNAP3B | ABCA1 | rs2275543-? | - | MODIFIER | chr9 | T | C |
|
chr9:104826853
|
c.2337+95T>A | Total cholesterol levels0.04137 | a0002a0003a0004a0005a0006others(21): Show | a0002c0011a0002c0015a0002c0017a0002c0024a0002c0025others(69): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012a0002c0011t0020a0002c0015t0002others(133): Show | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0007g0119a0002c0011t0007g0247others(186): Show | HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(186): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
128,305 Japanese ancestry individuals/ | NR | ABCA1 | rs4149310-? | - | MODIFIER | chr9 | A | T |
|
chr9:104903458
|
c.66+156C>T | Total cholesterol levels0.05618 | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
128,305 Japanese ancestry individuals/ | ABCA1 | ABCA1 | rs2575876-? | - | MODIFIER | chr9 | G | A |
|
chr9:104903458
|
c.66+156C>T | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)others(49): Show | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
56,505 European ancestry current drinkers, 9,870 A others(651): Show |
ABCA1 | ABCA1 | rs2575876-A | - | MODIFIER | chr9 | G | A |
|
chr9:104903458
|
c.66+156C>T | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)others(56): Show | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
44,831 European ancestry regular drinkers, 3,976 A others(636): Show |
ABCA1 | ABCA1 | rs2575876-A | - | MODIFIER | chr9 | G | A |
|
chr9:104903458
|
c.66+156C>T | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)others(49): Show | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
56,505 European ancestry current drinkers, 9,870 A others(651): Show |
ABCA1 | ABCA1 | rs2575876-A | - | MODIFIER | chr9 | G | A |
|
chr9:104903458
|
c.66+156C>T | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)others(56): Show | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
44,831 European ancestry regular drinkers, 3,976 A others(636): Show |
ABCA1 | ABCA1 | rs2575876-A | - | MODIFIER | chr9 | G | A |
|
chr9:104903458
|
c.66+156C>T | LDL cholesterol levels0.851 | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021a0001c0001t0006g0047a0001c0001t0006g0054others(88): Show | HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
89,893 European ancestry individuals, 20,989 Afric others(281): Show |
ABCA1 | ABCA1 | rs2575876-A | - | MODIFIER | chr9 | G | A |
|
chr9:104903458
|
c.66+156C>T | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)others(56): Show | a0001a0002a0003a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0035a0001c0092a0002c0011others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0011others(72): Show |
