| geneid | 29 |
|---|---|
| ensemblid | ENSG00000159842.16 |
| hgncid | 81 |
| symbol | ABR |
| name | ABR activator of RhoGEF and GTPase |
| refseq_nuc | NM_021962.5 |
| refseq_prot | NP_068781.2 |
| ensembl_nuc | ENST00000302538.10 |
| ensembl_prot | ENSP00000303909.5 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 1003519 |
| end | 1179981 |
| strand | - |
| ver | v1.2 |
| region | chr17:1003519-1179981 |
| region5000 | chr17:998519-1184981 |
| regionname0 | ABR_chr17_1003519_1179981 |
| regionname5000 | ABR_chr17_998519_1184981 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:1004075
|
C | T | 0.5875 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(195): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0056others(194): Show | 198 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*2005G>A | 2005 | |||||
|
chr17:1004989
|
G | A | 0.1602 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00733.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0062others(51): Show | 54 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*1091C>T | 1091 | |||||
|
chr17:1005147
|
G | GCCT | 0.0148 | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0038a0001c0003t0016a0001c0003t0080 | a0001c0002t0038g0013a0001c0003t0016g0163a0001c0003t0016g0218others(2): Show | 5 | 337 | 3 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*930_*932dupAGG | 932 | |||||
|
chr17:1005262
|
A | G | 0.3175 | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00733.hp1 others(104): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(42): Show | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0062others(104): Show | 107 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*818T>C | 818 | |||||
|
chr17:1005289
|
A | G | 0.8279 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(276): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(98): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0056others(275): Show | 279 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*791T>C | 791 | |||||
|
chr17:1005523
|
C | T | 0.2344 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(22): Show | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0062others(76): Show | 79 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*557G>A | 557 | |||||
|
chr17:1005555
|
G | A | 0.2255 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(73): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(19): Show | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0062others(73): Show | 76 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | c.*525C>T | 525 | |||||
|
chr17:1179789
|
A | G | 0.7389 | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(246): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0056others(245): Show | 249 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/23 | c.-62T>C | 62 | |||||
|
chr17:1179904
|
A | C | 0.1454 | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00741.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(21): Show | a0001c0001t0008g0007a0001c0001t0008g0011a0001c0001t0008g0012others(46): Show | 49 | 337 | 0 | ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/23 | c.-177T>G | 177 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABR | 0/1 | a0001 | 859 | 332 | 90 | 70 | 121 | 12 | 38 | subcellular location copy fasta | chr17 | 998519 | 1184981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABR | 0/0 | c0002 | 2580 | 21 | 11 | 8 | 1 | 1 | 0 | copy fasta | chr17 | 998519 | 1184981 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABR | 0/0 | t0038 | 2819 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | chr17 | 998519 | 1184981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABR | 0/0 | a0001c0002 | 21 | 11 | 8 | 1 | 1 | 0 | 2580 | copy fasta | chr17 | 998519 | 1184981 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABR | 0/0 | a0001c0002t0038 | 1 | 1 | 0 | 0 | 0 | 0 | 5398 | copy fasta | chr17 | 998519 | 1184981 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1179667 | - | 1 | -0.7484 | -0.7484 | -0.7484 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1125183 | - | 2 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1125367 | - | 2 | 0.9940 | 0.9940 | 0.9940 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1100637 | - | 3 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1100735 | - | 3 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1091665 | - | 4 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1091850 | - | 4 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1083520 | - | 5 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1083627 | - | 5 | 0.9859 | 0.9859 | 0.9859 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1079330 | - | 6 | -0.5754 | -0.5754 | -0.5754 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1079390 | - | 6 | 0.5521 | 0.5521 | 0.5521 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1073625 | - | 7 | -0.9748 | -0.9748 | -0.9748 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1073677 | - | 7 | 0.9820 | 0.9820 | 0.9820 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1072614 | - | 8 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1072754 | - | 8 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1069969 | - | 9 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1070090 | - | 9 | 0.9755 | 0.9755 | 0.9755 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1067077 | - | 10 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1067242 | - | 10 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1058745 | - | 11 | -0.9945 | -0.9945 | -0.9945 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1058867 | - | 11 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1057970 | - | 12 | -0.9935 | -0.9935 | -0.9935 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1058045 | - | 12 | 0.9933 | 0.9933 | 0.9933 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1056998 | - | 13 | -0.9804 | -0.9804 | -0.9804 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1057102 | - | 13 | 0.9502 | 0.9502 | 0.9502 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1056035 | - | 14 | -0.9956 | -0.9956 | -0.9956 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1056109 | - | 14 | 0.9903 | 0.9903 | 0.9903 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1050537 | - | 15 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1050634 | - | 15 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1050050 | - | 16 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1050181 | - | 16 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1013105 | - | 17 | -0.9884 | -0.9884 | -0.9884 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1013164 | - | 17 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1012688 | - | 18 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1012797 | - | 18 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1011846 | - | 19 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1011985 | - | 19 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1010729 | - | 20 | -0.9783 | -0.9783 | -0.9783 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1010863 | - | 20 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1009679 | - | 21 | -0.9975 | -0.9975 | -0.9975 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1009784 | - | 21 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1007165 | - | 22 | -0.9615 | -0.9615 | -0.9615 | 0.0000 | acceptor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1007312 | - | 22 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 1006169 | - | 23 | 0.6968 | 0.6967 | 0.6968 | 0.0000 | donor | a0001c0002t0038 | HG02622.hp2 | HG02622.hp2 | ABR | chr17 | 998519 | 1184981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:1024838
|
c.1792-11674C>T | Heel bone mineral density0.0241542 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(119): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(119): Show |
Identification of 153 new loci associated with hee others(74): Show |
76,067 European ancestry women, 66,420 European an others(11): Show |
ABR | ABR | rs2376600-G | - | MODIFIER | chr17 | G | A |
|
chr17:1024838
|
c.1792-11674C>T | Heel bone mineral density0.0323695 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(119): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(119): Show |
Identification of 153 new loci associated with hee others(74): Show |
76,067 European ancestry women, 66,420 European an others(11): Show |
ABR | ABR | rs2376600-G | - | MODIFIER | chr17 | G | A |
|
chr17:1024838
|
c.1792-11674C>T | Heel bone mineral density0.0280376 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(119): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(119): Show |
Identification of 153 new loci associated with hee others(74): Show |
76,067 European ancestry women, 66,420 European an others(11): Show |
ABR | ABR | rs2376600-G | - | MODIFIER | chr17 | G | A |
|
chr17:1005555
|
c.*525C>T | Total cholesterol levels | a0001a0003 | a0001c0001a0001c0002a0001c0007a0003c0015 | a0001c0001t0003a0001c0001t0007a0001c0001t0008a0001c0001t0011a0001c0001t0014others(17): Show | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0062a0001c0001t0003g0068a0001c0001t0003g0072others(71): Show | HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG01081.hp1 others(71): Show |
Heritability and Genome-Wide Association Study of others(42): Show |
139 Chinese ancestry dizygotic twin pairs/ | ABR | ABR | rs3263-? | - | MODIFIER | chr17 | G | A |
|
chr17:1024838
|
c.1792-11674C>T | Heel bone mineral density | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(119): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(119): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 446,000 European ancestry individual others(2): Show |
ABR | rs2376600-? | - | MODIFIER | chr17 | G | A | |
|
chr17:1024276
|
c.1792-11112T>G | Height | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(153): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(153): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ABR | rs2663339-? | - | MODIFIER | chr17 | A | C | |
|
chr17:1023500
|
c.1792-10336C>T | Appendicular lean mass0.0153 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(68): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(165): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(165): Show |
The genetic architecture of appendicular lean mass others(63): Show |
450,243 European ancestry individuals/ | ABR | ABR | rs2663343-A | - | MODIFIER | chr17 | G | A |
|
chr17:1023500
|
c.1792-10336C>T | Bone density (confirmatory factor analysis Factor 19)others(13): Show | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(68): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(165): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(165): Show |
Principled distillation of UK Biobank phenotype da others(51): Show |
115,532 European ancestry individuals/ | ABR | rs2663343-? | - | MODIFIER | chr17 | G | A | |
|
chr17:1023500
|
c.1792-10336C>T | Cortical surface area | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(68): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(165): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(165): Show |
Vertex-wise multivariate genome-wide association s others(76): Show |
35,657 White British ancestry individuals/ | NR | ABR | rs2663343-A | - | MODIFIER | chr17 | G | A |
|
chr17:1024838
|
c.1792-11674C>T | Heel bone mineral density0.032655 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(119): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(119): Show |
Identification of 613 new loci associated with hee others(102): Show |
394,929 European ancestry individuals/ | ABR | rs2376600-? | - | MODIFIER | chr17 | G | A | |
|
chr17:1022881
|
c.1792-9717C>T | Serum phosphate levels0.0194 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(70): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(165): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(165): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
312,888 European ancestry individuals, 5,568 Afric others(64): Show |
NR | ABR | rs2586252-A | - | MODIFIER | chr17 | G | A |
|
chr17:1024276
|
c.1792-11112T>G | Brain shape (segment 1) | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(153): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(153): Show |
Shared heritability of human face and brain shape. | 19,670 European ancestry individuals/ | ABR | rs2663339-? | - | MODIFIER | chr17 | A | C | |
|
chr17:1015245
|
c.1792-2081A>G | Diacylglycerol (16:0_16:1) levels0.133 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(89): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0089others(249): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(249): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | ABR | rs11657764-C | - | MODIFIER | chr17 | T | C | |
|
chr17:1024276
|
c.1792-11112T>G | Height0.0135773 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(153): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(153): Show |
A Genomics England haplotype reference panel and i others(24): Show |
404,900 European ancestry individuals/ | ABR | rs2663339-? | - | MODIFIER | chr17 | A | C | |
|
chr17:1023500
|
c.1792-10336C>T | Vertex-wise sulcal depth10.53 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(68): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(165): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(165): Show |
The genetic architecture of human cortical folding others(1): Show |
33,748 European ancestry individuals/ | ABR | rs2663343-A | - | MODIFIER | chr17 | G | A | |
|
chr17:1023500
|
c.1792-10336C>T | Vertex-wise cortical surface area6.6 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(68): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(165): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(165): Show |
The genetic architecture of human cortical folding others(1): Show |
33,748 European ancestry individuals/ | ABR | rs2663343-A | - | MODIFIER | chr17 | G | A | |
|
chr17:999082
|
c.*6998T>C | Educational attainment0.00509499 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0007a0001c0001t0008others(70): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0061others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(199): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | TIMM22 | rs2586238-A | - | MODIFIER | chr17 | A | G | |
|
chr17:1024838
|
c.1792-11674C>T | Heel bone mineral density0.030753 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(119): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(119): Show |
An atlas of genetic influences on osteoporosis in others(16): Show |
426,824 British ancestry individuals/ | ABR | ABR | rs2376600-G | - | MODIFIER | chr17 | G | A |
|
chr17:1022524
|
c.1792-9360T>C | T2 brain MRIs Unsupervised Deep learning derived Imaging Phenotypes (dimension 76)others(42): Show | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(70): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(166): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(166): Show |
Unsupervised deep representation learning enables others(69): Show |
22,960 British ancestry individuals/11,265 British others(21): Show |
ABR, MIR3183 | rs2663345-? | - | MODIFIER | chr17 | A | G | |
|
chr17:1005555
|
c.*525C>T | Height0.0066 | a0001a0003 | a0001c0001a0001c0002a0001c0007a0003c0015 | a0001c0001t0003a0001c0001t0007a0001c0001t0008a0001c0001t0011a0001c0001t0014others(17): Show | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0062a0001c0001t0003g0068a0001c0001t0003g0072others(71): Show | HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG01081.hp1 others(71): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABR | rs3263-A | - | MODIFIER | chr17 | G | A | |
|
chr17:1043993
|
c.1791+6057T>C | Height0.0041 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(71): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(215): Show | HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 others(216): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABR | rs2120233-A | - | MODIFIER | chr17 | A | G | |
|
chr17:1022524
|
c.1792-9360T>C |
Standing height (UKB data field 50)0.009 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(70): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0083others(166): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 others(166): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ABR, MIR3183 | rs2663345-G | - | MODIFIER | chr17 | A | G |
