| geneid | 23460 |
|---|---|
| ensemblid | ENSG00000154262.13 |
| hgncid | 36 |
| symbol | ABCA6 |
| name | ATP binding cassette subfamily A member 6 |
| refseq_nuc | NM_080284.3 |
| refseq_prot | NP_525023.2 |
| ensembl_nuc | ENST00000284425.7 |
| ensembl_prot | ENSP00000284425.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 69078702 |
| end | 69141895 |
| strand | - |
| ver | v1.2 |
| region | chr17:69078702-69141895 |
| region5000 | chr17:69073702-69146895 |
| regionname0 | ABCA6_chr17_69078702_69141895 |
| regionname5000 | ABCA6_chr17_69073702_69146895 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69105577
|
C | T | 0.6810 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0007others(9): Show | a0001c0001a0002c0002a0002c0019others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(192): Show | 222 | 326 | 0 | ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/39 | c.2625G>A | p.Met875Ile | 2821/5321 | 2625/4854 | 875/1617 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA6 | 0/0 | a0002 | 1617 | 92 | 11 | 10 | 56 | 3 | 12 | subcellular location copy fasta | chr17 | 69073702 | 69146895 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69141745 | - | 1 | -0.3965 | -0.3443 | -0.3192 | 0.0774 | acceptor | a0002 | HG02280.hp1 | NA18957.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69140608 | - | 2 | -0.9972 | -0.9971 | -0.9968 | 0.0004 | acceptor | a0002 | HG01934.hp1 | NA18962.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69140748 | - | 2 | 0.9962 | 0.9961 | 0.9960 | 0.0002 | donor | a0002 | HG01884.hp2 HG02523.hp1 |
HG02055.hp1 HG03471.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69137296 | - | 3 | -0.9389 | -0.9058 | -0.8965 | 0.0424 | acceptor | a0002 | HG02922.hp2 | NA19062.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69137500 | - | 3 | 0.9445 | 0.9220 | 0.9184 | 0.0262 | donor | a0002 | HG02922.hp2 | NA19062.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69136092 | - | 4 | -0.7542 | -0.7242 | -0.6403 | 0.1139 | acceptor | a0002 | HG02922.hp2 | HG00140.hp2 HG00639.hp1 HG01074.hp2 HG01928.hp1 HG02698.hp2 others(9): Show |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69136250 | - | 4 | 0.8455 | 0.7840 | 0.7798 | 0.0656 | donor | a0002 | HG00140.hp2 HG00639.hp1 HG01074.hp2 HG01928.hp1 HG02698.hp2 others(9): Show |
NA19062.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69134639 | - | 5 | -0.7151 | -0.6940 | -0.6233 | 0.0917 | acceptor | a0002 | HG02486.hp1 | NA19078.hp1 NA19090.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69134742 | - | 5 | 0.6937 | 0.6663 | 0.6645 | 0.0293 | donor | a0002 | NA19084.hp2 | NA19062.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69133641 | - | 6 | -0.5870 | -0.5479 | -0.5366 | 0.0504 | acceptor | a0002 | HG01346.hp1 NA18982.hp1 |
HG01256.hp1 NA19081.hp2 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69133867 | - | 6 | 0.6536 | 0.6100 | 0.5687 | 0.0849 | donor | a0002 | HG02486.hp1 | NA19078.hp1 NA19090.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69129610 | - | 7 | -0.8171 | -0.8138 | -0.8105 | 0.0066 | acceptor | a0002 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
NA19084.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69129751 | - | 7 | 0.8911 | 0.8786 | 0.8690 | 0.0221 | donor | a0002 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
HG02135.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69128619 | - | 8 | -0.9988 | -0.9986 | -0.9986 | 0.0002 | acceptor | a0002 | HG03942.hp1 | NA20905.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69128804 | - | 8 | 0.9974 | 0.9972 | 0.9972 | 0.0002 | donor | a0002 | HG03942.hp1 | NA20905.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69124888 | - | 9 | -0.9665 | -0.9662 | -0.9626 | 0.0039 | acceptor | a0002 | HG03942.hp1 | HG02602.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69125035 | - | 9 | 0.9345 | 0.9335 | 0.9307 | 0.0038 | donor | a0002 | HG02165.hp1 | HG02602.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69123239 | - | 10 | -0.9256 | -0.9181 | -0.8919 | 0.0338 | acceptor | a0002 | NA18522.hp1 | HG02602.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69123407 | - | 10 | 0.8795 | 0.8778 | 0.8461 | 0.0334 | donor | a0002 | NA19072.hp2 | HG02602.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69117898 | - | 11 | -0.9959 | -0.9959 | -0.9955 | 0.0004 | acceptor | a0002 | HG02922.hp2 | NA19070.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69117956 | - | 11 | 0.9944 | 0.9943 | 0.9938 | 0.0007 | donor | a0002 | HG02922.hp2 | NA19070.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69115376 | - | 12 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0002 | HG02922.hp2 | NA18955.hp2 NA18963.hp1 NA19010.hp1 NA19075.hp2 NA19078.hp1 others(1): Show |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69115486 | - | 12 | 0.9968 | 0.9968 | 0.9967 | 0.0001 | donor | a0002 | NA18955.hp2 NA18963.hp1 NA19010.hp1 NA19075.hp2 NA19078.hp1 |
HG02922.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69114762 | - | 13 | -0.9986 | -0.9985 | -0.9984 | 0.0002 | acceptor | a0002 | NA19084.hp1 | NA19082.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69114937 | - | 13 | 0.9972 | 0.9971 | 0.9969 | 0.0002 | donor | a0002 | NA19082.hp1 | HG01346.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69113618 | - | 14 | -0.9970 | -0.9969 | -0.9968 | 0.0002 | acceptor | a0002 | HG00099.hp1 | HG02486.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69113737 | - | 14 | 0.9988 | 0.9988 | 0.9987 | 0.0001 | donor | a0002 | HG00099.hp1 HG01884.hp2 HG02818.hp2 HG03130.hp2 NA18955.hp2 others(4): Show |
HG02486.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69113222 | - | 15 | -0.9789 | -0.9628 | -0.9604 | 0.0184 | acceptor | a0002 | HG02486.hp1 | NA19004.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69113360 | - | 15 | 0.9250 | 0.9232 | 0.9172 | 0.0078 | donor | a0002 | HG00099.hp1 | HG02486.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69112183 | - | 16 | -0.7945 | -0.7827 | -0.7791 | 0.0154 | acceptor | a0002 | HG02486.hp1 | HG00099.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69112273 | - | 16 | 0.8227 | 0.8206 | 0.8174 | 0.0053 | donor | a0002 | HG02486.hp1 | NA19004.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69110801 | - | 17 | -0.8692 | -0.8642 | -0.8590 | 0.0102 | acceptor | a0002 | HG02486.hp1 | HG03654.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69110940 | - | 17 | 0.7933 | 0.7879 | 0.7853 | 0.0080 | donor | a0002 | HG02486.hp1 | HG02523.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69107696 | - | 18 | -0.9985 | -0.9983 | -0.9983 | 0.0002 | acceptor | a0002 | NA18959.hp2 | HG01256.hp1 HG02922.hp2 NA18962.hp2 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69107812 | - | 18 | 0.9960 | 0.9958 | 0.9951 | 0.0009 | donor | a0002 | NA18987.hp2 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69106028 | - | 19 | -0.8223 | -0.8122 | -0.8050 | 0.0173 | acceptor | a0002 | NA18955.hp2 NA18963.hp1 |
HG02523.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69106211 | - | 19 | 0.9921 | 0.9899 | 0.9890 | 0.0031 | donor | a0002 | HG01928.hp1 | NA19054.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69105462 | - | 20 | -0.9841 | -0.9785 | -0.9784 | 0.0057 | acceptor | a0002 | NA18959.hp2 | NA18942.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69105628 | - | 20 | 0.7486 | 0.7369 | 0.7213 | 0.0272 | donor | a0002 | NA19075.hp2 | NA19054.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69102835 | - | 21 | -0.9974 | -0.9970 | -0.9967 | 0.0007 | acceptor | a0002 | NA18948.hp1 NA18959.hp2 |
NA19075.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69102968 | - | 21 | 0.9942 | 0.9936 | 0.9925 | 0.0016 | donor | a0002 | HG03688.hp2 HG04184.hp2 NA19001.hp2 |
NA19075.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69100797 | - | 22 | -0.7990 | -0.7951 | -0.7840 | 0.0150 | acceptor | a0002 | NA19075.hp2 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69100934 | - | 22 | 0.7804 | 0.7684 | 0.7607 | 0.0197 | donor | a0002 | NA19075.hp2 | HG01256.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69097920 | - | 23 | -0.8346 | -0.8195 | -0.8051 | 0.0296 | acceptor | a0002 | HG03688.hp2 | NA18974.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69098027 | - | 23 | 0.8150 | 0.7992 | 0.7919 | 0.0231 | donor | a0002 | HG00140.hp2 HG00639.hp1 HG01074.hp2 HG01346.hp1 HG02015.hp2 others(8): Show |
NA18940.hp1 NA18982.hp1 NA19083.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69096628 | - | 24 | -0.9705 | -0.9681 | -0.9563 | 0.0142 | acceptor | a0002 | NA19074.hp2 | NA18940.hp1 NA18982.hp1 NA19083.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69096801 | - | 24 | 0.9264 | 0.9132 | 0.9131 | 0.0133 | donor | a0002 | NA18974.hp2 | NA19066.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69096240 | - | 25 | -0.9037 | -0.9002 | -0.8952 | 0.0085 | acceptor | a0002 | NA18974.hp2 | HG01884.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69096353 | - | 25 | 0.8367 | 0.8324 | 0.8138 | 0.0229 | donor | a0002 | NA19074.hp2 | HG03688.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69091143 | - | 26 | -0.4045 | -0.3839 | -0.3706 | 0.0338 | acceptor | a0002 | HG02486.hp1 NA18940.hp1 NA19001.hp2 NA19004.hp2 |
HG01346.hp1 HG02055.hp1 HG02280.hp1 HG03471.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69091262 | - | 26 | 0.4014 | 0.3980 | 0.3566 | 0.0448 | donor | a0002 | HG03654.hp1 | HG02486.hp1 NA18940.hp1 NA19001.hp2 NA19004.hp2 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69089465 | - | 27 | -0.6302 | -0.5858 | -0.5716 | 0.0585 | acceptor | a0002 | HG02074.hp2 | NA19004.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69089542 | - | 27 | 0.6380 | 0.6145 | 0.5864 | 0.0516 | donor | a0002 | HG02074.hp2 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69088167 | - | 28 | -0.5006 | -0.4316 | -0.4160 | 0.0846 | acceptor | a0002 | NA19001.hp2 | NA18971.hp2 NA19062.hp1 NA19084.hp2 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69088258 | - | 28 | 0.6200 | 0.5701 | 0.5456 | 0.0744 | donor | a0002 | HG02074.hp2 | HG02165.hp1 NA18945.hp2 NA18957.hp2 NA18969.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69087353 | - | 29 | -0.9823 | -0.9667 | -0.9523 | 0.0300 | acceptor | a0002 | NA19001.hp2 | HG02135.hp2 NA18942.hp2 NA18993.hp1 NA19007.hp2 NA19068.hp2 others(1): Show |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69087473 | - | 29 | 0.9555 | 0.9110 | 0.8772 | 0.0783 | donor | a0002 | NA19001.hp2 | HG01256.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69086618 | - | 30 | -0.9932 | -0.9726 | -0.9613 | 0.0319 | acceptor | a0002 | HG02071.hp2 | NA19072.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69086735 | - | 30 | 0.9933 | 0.9635 | 0.9390 | 0.0544 | donor | a0002 | HG02071.hp2 | NA19072.hp2 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69085625 | - | 31 | -0.9766 | -0.9560 | -0.9532 | 0.0234 | acceptor | a0002 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
HG01256.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69085716 | - | 31 | 0.9654 | 0.9536 | 0.9341 | 0.0312 | donor | a0002 | HG01346.hp1 | NA18953.hp1 NA18989.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69085028 | - | 32 | -0.9985 | -0.9984 | -0.9976 | 0.0009 | acceptor | a0002 | HG00140.hp2 HG00639.hp1 HG01074.hp2 |
HG02055.hp1 HG02280.hp1 HG03471.hp1 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69085182 | - | 32 | 0.9994 | 0.9993 | 0.9992 | 0.0002 | donor | a0002 | HG01109.hp2 HG02486.hp1 HG02735.hp1 NA19072.hp2 NA19083.hp1 |
NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69084432 | - | 33 | -0.9972 | -0.9971 | -0.9965 | 0.0007 | acceptor | a0002 | NA19072.hp2 | NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69084507 | - | 33 | 0.9980 | 0.9979 | 0.9970 | 0.0010 | donor | a0002 | HG00140.hp2 HG00639.hp1 |
NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69084261 | - | 34 | -0.9848 | -0.9846 | -0.9785 | 0.0063 | acceptor | a0002 | HG01109.hp2 HG02486.hp1 HG02735.hp1 NA19083.hp1 |
NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69084355 | - | 34 | 0.9842 | 0.9834 | 0.9734 | 0.0108 | donor | a0002 | HG03490.hp1 HG03492.hp2 |
NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69083212 | - | 35 | -0.9825 | -0.9815 | 0.0000 | 0.9824 | acceptor | a0002 | HG01884.hp2 | NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69083331 | - | 35 | 0.9933 | 0.9931 | 0.2209 | 0.7725 | donor | a0002 | NA19001.hp2 | NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69082873 | - | 36 | -0.9980 | -0.9977 | -0.9977 | 0.0004 | acceptor | a0002 | HG00140.hp2 HG00639.hp1 HG01884.hp2 HG02015.hp2 HG02135.hp2 others(14): Show |
NA18522.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69083013 | - | 36 | 0.9954 | 0.9952 | 0.9927 | 0.0027 | donor | a0002 | HG01934.hp1 | NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69081066 | - | 37 | -0.9880 | -0.9877 | -0.9862 | 0.0017 | acceptor | a0002 | HG00140.hp2 HG00639.hp1 HG01884.hp2 HG02135.hp2 HG02818.hp2 others(6): Show |
NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69081145 | - | 37 | 0.9889 | 0.9887 | 0.9876 | 0.0013 | donor | a0002 | HG00140.hp2 HG00639.hp1 HG01884.hp2 HG02135.hp2 HG02818.hp2 others(6): Show |
NA18982.hp1 | ABCA6 | chr17 | 69073702 | 69146895 |
| 69079210 | - | 38 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0002 | HG00140.hp2 HG00639.hp1 HG01884.hp2 HG02135.hp2 HG02818.hp2 others(6): Show |
HG02055.hp1 HG02280.hp1 HG03471.hp1 NA18522.hp1 NA19072.hp2 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69079265 | - | 38 | 0.9964 | 0.9961 | 0.9961 | 0.0003 | donor | a0002 | HG01346.hp1 | HG00140.hp2 HG00639.hp1 HG01884.hp2 HG02135.hp2 HG02818.hp2 others(6): Show |
ABCA6 | chr17 | 69073702 | 69146895 |
| 69079074 | - | 39 | 0.6793 | 0.6729 | 0.6464 | 0.0329 | donor | a0002 | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
HG02486.hp1 HG03942.hp1 NA18967.hp2 |
ABCA6 | chr17 | 69073702 | 69146895 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69121547
|
c.1436+1692T>C | MGMT methylation in smokers1.63 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0002c0002a0003c0003a0003c0009a0004c0004others(19): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001a0003c0009t0001a0004c0004t0002others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(187): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 others(224): Show |
Implication of a Chromosome 15q15.2 Locus in Regul others(64): Show |
296 European ancestry individuals with MGMT methy others(190): Show |
ABCA6, ABCA10 | ABCA6 | rs997781-A | - | MODIFIER | chr17 | A | G |
|
chr17:69075438
|
c.*3535C>T | Total cholesterol levels0.0513 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | HG03688.hp2 |
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 | rs72850341-A | - | MODIFIER | chr17 | G | A |
|
chr17:69086821
|
c.3820-86G>C |
Medication use (HMG CoA reductase inhibitors) others(15): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Genome-wide association study of medication-use an others(39): Show |
73,475 European ancestry cases, 216,910 European a others(17): Show |
ABCA6 | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G |
|
chr17:69086821
|
c.3820-86G>C |
Sex hormone-binding globulin levels0.008 others(5): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Using human genetics to understand the disease imp others(38): Show |
189,473 European ancestry women/ | NR | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G |
|
chr17:69086821
|
c.3820-86G>C | Sex hormone-binding globulin levels adjusted for BMIothers(22): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Using human genetics to understand the disease imp others(38): Show |
188,908 European ancestry women/ | NR | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G |
|
chr17:69142737
|
c.-1038G>T | Cholesterol, total1.237 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0002c0002a0003c0003a0004c0004a0005c0005others(8): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001a0004c0004t0002a0005c0005t0002others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(140): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
Genetic Susceptibility to Lipid Levels and Lipid C others(75): Show |
8,344 Han Chinese ancestry individuals/14,739 Han others(28): Show |
ABCA8 | ABCA6 - ABCA10 | rs12453914-A | - | MODIFIER | chr17 | C | A |
|
chr17:69076746
|
c.*2227G>A | Schizophrenia x sex interaction0.248 | a0001a0002a0006a0007a0011others(9): Show | a0001c0001a0002c0002a0002c0019a0006c0013a0007c0006others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002a0002c0002t0003a0002c0019t0002others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
Sex-Dependent Shared and Nonshared Genetic Archite others(42): Show |
31,567 European ancestry cases, 37,494 European an others(85): Show |
ABCA9, ABCA6 | ABCA9 - ABCA6 | rs12945932-T | - | MODIFIER | chr17 | C | T |
|
chr17:69077502
|
c.*1471T>G | Schizophrenia x sex interaction0.2557 | a0001a0002a0003a0006a0007others(10): Show | a0001c0001a0002c0002a0002c0019a0003c0009a0006c0007others(13): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002a0002c0002t0003a0002c0019t0002others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(204): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(235): Show |
Sex-Dependent Shared and Nonshared Genetic Archite others(42): Show |
31,567 European ancestry cases, 37,494 European an others(16): Show |
ABCA9, ABCA6 | ABCA9 - ABCA6 | rs9896308-A | - | MODIFIER | chr17 | A | C |
|
chr17:69075438
|
c.*3535C>T | Apolipoprotein B levels0.0532 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | HG03688.hp2 |
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 | rs72850341-A | - | MODIFIER | chr17 | G | A |
|
chr17:69075438
|
c.*3535C>T | Low density lipoprotein cholesterol levelsothers(8): Show | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | HG03688.hp2 |
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 | rs72850341-A | - | MODIFIER | chr17 | G | A |
|
chr17:69086125
|
c.3938-409C>T | LDL cholesterol levels0.0036 | a0002a0007a0011a0014a0019others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0014c0018others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0019t0002a0007c0006t0002a0011c0014t0002others(5): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(87): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00639.hp1 others(94): Show |
Common and Rare PCSK9 Variants Associated w others(114): Show |
75,441 East Asian ancestry individuals/ | ABCA6 | rs12162136-? | - | MODIFIER | chr17 | G | A | |
|
chr17:69086821
|
c.3820-86G>C | Concentration of VLDL particles (UKB data field 23428)others(23): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Matrix Gla protein levels0.235 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Phospholipids in small VLDL (UKB data field 23511)others(19): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Cholesteryl esters in medium LDL (UKB data field 23541)others(24): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Concentration of medium VLDL particles (UKB data field 23502)others(30): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Phospholipids in medium VLDL (UKB data field 23504)others(20): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Phospholipid levels in VLDL0.0348563 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Cholesteryl ester levels in very large VLDL others(12): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Linoleic acid levels0.0334514 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,006 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Total lipid levels in small VLDL0.036391 others(1): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Concentration of small VLDL particles0.0 others(6): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Sex hormone-binding globulin levels0.020 others(4): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Cross-ancestry genome-wide association studies of others(60): Show |
196,901 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Sex hormone-binding globulin levels4.507 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Cross-ancestry genome-wide association studies of others(60): Show |
4,522 African ancestry individuals, 196,901 Europe others(24): Show |
ABCA6 | rs740516-? | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Total cholesterol levels | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | ABCA6 | rs740516-? | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Cholesterol levels in large VLDL0.031455 others(1): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Cholesteryl ester levels in large VLDL0. others(6): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Total cholesterol levels0.0272 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
The contribution of common and rare genetic varian others(59): Show |
288,127 East Asian ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | LDL cholesterol levels0.0333 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
The contribution of common and rare genetic varian others(59): Show |
288,127 East Asian ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Total omega-6 fatty acid levels0.032 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Role of circulating polyunsaturated fatty acids on others(152): Show |
114,999 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Linoleic acid levels0.034 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Role of circulating polyunsaturated fatty acids on others(152): Show |
114,999 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69088921
|
c.3606+544G>A | Low density lipoprotein cholesterol levelsothers(9): Show | a0002a0007a0011a0014a0019others(4): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0014c0018others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0019t0002a0007c0006t0002a0011c0014t0002others(6): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(88): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00639.hp1 others(95): Show |
Phenome-wide analysis of Taiwan Biobank reveals no others(57): Show |
76,650 Taiwanese ancestry individuals/ | ABCA6 | rs8077252-? | - | MODIFIER | chr17 | C | T | |
|
chr17:69088921
|
c.3606+544G>A | Total cholesterol levels1.1622 | a0002a0007a0011a0014a0019others(4): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0014c0018others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0019t0002a0007c0006t0002a0011c0014t0002others(6): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(88): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00639.hp1 others(95): Show |
Phenome-wide analysis of Taiwan Biobank reveals no others(57): Show |
76,578 Taiwanese ancestry individuals/ | ABCA6 | rs8077252-? | - | MODIFIER | chr17 | C | T | |
|
chr17:69086821
|
c.3820-86G>C |
Total lipid levels in medium VLDL0.03698 others(2): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Omega-6 fatty acid levels0.0313763 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,006 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69137279
|
c.301+17C>T | Total cholesterol levels0.0713227 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0246a0002c0002t0002g0247a0002c0002t0002g0248others(1): Show | HG01884.hp2 HG02523.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
99,432 Admixed African or African ancestry individ others(5): Show |
ABCA6 | rs112299992-A | - | MODIFIER | chr17 | G | A | |
|
chr17:69086125
|
c.3938-409C>T | Total cholesterol levels0.0340664 | a0002a0007a0011a0014a0019others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0014c0018others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0019t0002a0007c0006t0002a0011c0014t0002others(5): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(87): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00639.hp1 others(94): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
146,492 East Asian ancestry individuals/ | ABCA6 | rs12162136-A | - | MODIFIER | chr17 | G | A | |
|
chr17:69086125
|
c.3938-409C>T | Low density lipoprotein cholesterol levelsothers(11): Show | a0002a0007a0011a0014a0019others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0014c0018others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0019t0002a0007c0006t0002a0011c0014t0002others(5): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(87): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00639.hp1 others(94): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
146,492 East Asian ancestry individuals/ | ABCA6 | rs12162136-A | - | MODIFIER | chr17 | G | A | |
|
chr17:69137279
|
c.301+17C>T | Low density lipoprotein cholesterol levelsothers(11): Show | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0246a0002c0002t0002g0247a0002c0002t0002g0248others(1): Show | HG01884.hp2 HG02523.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
99,432 Admixed African or African ancestry individ others(5): Show |
ABCA6 | rs112299992-A | - | MODIFIER | chr17 | G | A | |
|
chr17:69137279
|
c.301+17C>T | Total cholesterol levels (MTAG)0.053 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0246a0002c0002t0002g0247a0002c0002t0002g0248others(1): Show | HG01884.hp2 HG02523.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
Multi-trait discovery and fine-mapping of lipid lo others(46): Show |
125,000 African ancestry individuals (MTAG boosted others(55): Show |
ABCA6 | rs112299992-A | - | MODIFIER | chr17 | G | A | |
|
chr17:69086821
|
c.3820-86G>C | Hyperlipidemia (PheCode 272.1)0.06107 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
335,680 European ancestry cases, 90,923 European a others(17): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Disorders of lipid metabolism (PheCode 272) others(10): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
82,107 African American or Afro-Caribbean cases, 3 others(272): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Hyperlipidemia (PheCode 272.1)0.06599 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
82,035 African American or Afro-Caribbean cases, 3 others(272): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed)others(36): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
113,213 African American or Afro-Caribbean individ others(130): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | low density lipoprotein cholesterol (LDLC, minimum, inv-norm transformed)others(39): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
113,217 African American or Afro-Caribbean individ others(130): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C |
Disorders of lipid metabolism (PheCode 272) others(10): Show |
a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
335,948 European ancestry cases, 90,622 European a others(17): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Total cholesterol levels0.020591 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
A cross-population atlas of genetic associations f others(24): Show |
135,808 East Asian ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | total cholesterol (maximum, inv-norm transformed)others(16): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
397,478 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | total cholesterol (minimum, inv-norm transformed)others(16): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
397,646 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | total cholesterol (mean, inv-norm transformed)others(13): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
397,615 European ancestry individuals/ | ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Low density lipoprotein cholesterol levelsothers(2): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | ABCA6 | rs740516-? | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Total cholesterol levels0.0286 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Loss-of-function genomic variants highlight potent others(51): Show |
76,081 European ancestry individuals, 127,395 Japa others(26): Show |
ABCA6 | ABCA6 | rs740516-? | - | MODIFIER | chr17 | C | G |
|
chr17:69086821
|
c.3820-86G>C | Low density lipoprotein cholesterol levelsothers(8): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Loss-of-function genomic variants highlight potent others(51): Show |
76,081 European ancestry individuals, 127,395 Japa others(26): Show |
ABCA6 | ABCA6 | rs740516-? | - | MODIFIER | chr17 | C | G |
|
chr17:69086821
|
c.3820-86G>C | total cholesterol (mean, inv-norm transformed)others(13): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
112,265 African American or Afro-Caribbean individ others(130): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | total cholesterol (maximum, inv-norm transformed)others(16): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
112,221 African American or Afro-Caribbean individ others(130): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | total cholesterol (minimum, inv-norm transformed)others(16): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
112,278 African American or Afro-Caribbean individ others(130): Show |
ABCA6 | rs740516-C | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | Direct low density lipoprotein levels (UKB data field 30780)others(31): Show | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G | |
|
chr17:69086821
|
c.3820-86G>C | CCL22 protein levels0.1307824 | a0002a0007a0011a0019a0020others(3): Show | a0002c0002a0002c0019a0007c0006a0011c0014a0019c0027others(4): Show | a0002c0002t0002a0002c0019t0002a0007c0006t0002a0011c0014t0002a0019c0027t0002others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0024a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(65): Show | HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 others(72): Show |
A scalable variational inference approach for incr others(36): Show |
47,745 European ancestry individuals/ | ABCA6 | rs740516-G | - | MODIFIER | chr17 | C | G |