| geneid | 675 |
|---|---|
| ensemblid | ENSG00000139618.18 |
| hgncid | 1101 |
| symbol | BRCA2 |
| name | BRCA2 DNA repair associated |
| refseq_nuc | NM_000059.4 |
| refseq_prot | NP_000050.3 |
| ensembl_nuc | ENST00000380152.8 |
| ensembl_prot | ENSP00000369497.3 |
| mane_status | MANE Select |
| chr | chr13 |
| start | 32315508 |
| end | 32400268 |
| strand | + |
| ver | v1.2 |
| region | chr13:32315508-32400268 |
| region5000 | chr13:32310508-32405268 |
| regionname0 | BRCA2_chr13_32315508_32400268 |
| regionname5000 | BRCA2_chr13_32310508_32405268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:32399885
|
C | A | 0.9975 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(394): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0003a0001c0004others(48): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(85): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(373): Show | 397 | 398 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 27/27 | c.*1115C>A | 1115 | |||||
|
chr13:32400151
|
T | A | 0.8015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0003a0001c0004others(40): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(301): Show | 319 | 398 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 27/27 | c.*1381T>A | 1381 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:32326480
|
C | T | intron_variant | MODIFIER | HG03041.hp1 NA20300.hp2 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0299a0005c0007t0003g0300 | 2 | 398 | 0.0050 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 6/26 | c.517-19C>T | ||||||
|
chr13:32356799
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(393): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0003a0001c0004others(48): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(84): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(372): Show | 396 | 398 | 0.9950 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 15/26 | c.7617+190G>A | ||||||
|
chr13:32359222
|
GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(153): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0004a0001c0010others(20): Show | a0001c0003t0014a0001c0003t0036a0001c0004t0003others(37): Show | a0001c0003t0014g0078a0001c0003t0014g0079a0001c0003t0014g0080others(141): Show | 156 | 398 | 0.3920 | -1 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 16/26 | c.7805+1314delA | INFO_REALIGN_3_PRIME | |||||
|
chr13:32365109
|
CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(70): Show |
a0001a0002a0005others(8): Show | a0001c0003a0001c0004a0001c0010others(11): Show | a0001c0003t0010a0001c0004t0005a0001c0004t0012others(20): Show | a0001c0003t0010g0076a0001c0003t0010g0077a0001c0004t0005g0112others(65): Show | 73 | 398 | 0.1834 | -1 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | c.8331+1604delT | INFO_REALIGN_3_PRIME | |||||
|
chr13:32365721
|
C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(163): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0011others(22): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(154): Show | 166 | 398 | 0.4171 | 1 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | c.8331+2209dupT | INFO_REALIGN_3_PRIME | |||||
|
chr13:32371231
|
T | TC | intron_variant | MODIFIER | HG01175.hp1 HG03041.hp1 NA20300.hp2 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0294a0005c0007t0003g0299a0005c0007t0003g0300 | 3 | 398 | 0.0075 | 1 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 20/26 | c.8632+132dupC | INFO_REALIGN_3_PRIME | |||||
|
chr13:32373331
|
C | T | intron_variant | MODIFIER | HG03041.hp1 NA20300.hp2 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0299a0005c0007t0003g0300 | 2 | 398 | 0.0050 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 20/26 | c.8632+2231C>T | ||||||
|
chr13:32388406
|
A | G | intron_variant | MODIFIER | HG03041.hp1 NA20300.hp2 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0299a0005c0007t0003g0300 | 2 | 398 | 0.0050 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 24/26 | c.9257-6283A>G | ||||||
|
chr13:32395960
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(180): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(169): Show | 183 | 398 | 0.4598 | 1 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 25/26 | c.9502-910dupT | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 1/0 | a0005 | 3418 | 9 | 7 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr13 | 32310508 | 32405268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 1/0 | c0007 | 10257 | 7 | 5 | 1 | 0 | 0 | 0 | copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | t0003 | 1698 | 56 | 13 | 15 | 20 | 1 | 7 | copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | g0299 | 1 | 1 | 0 | 0 | 0 | 0 | chr13 | 32310508 | 32405268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 1/0 | a0005c0007 | 7 | 5 | 1 | 0 | 0 | 0 | 10257 | copy fasta | chr13 | 32310508 | 32405268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | a0005c0007t0003 | 5 | 4 | 1 | 0 | 0 | 0 | 11954 | copy fasta | chr13 | 32310508 | 32405268 |
| 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | a0005c0007t0003g0299 | 1 | 1 | 0 | 0 | 0 | 0 | chr13 | 32310508 | 32405268 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 32315667 | + | 1 | -0.5631 | -0.5631 | -0.5631 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32316422 | + | 2 | 0.9324 | 0.9324 | 0.9324 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32316527 | + | 2 | -0.9121 | -0.9121 | -0.9121 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32319077 | + | 3 | 0.9711 | 0.9710 | 0.9711 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32319325 | + | 3 | -0.9570 | -0.9570 | -0.9570 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32325076 | + | 4 | 0.9812 | 0.9812 | 0.9812 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32325184 | + | 4 | -0.9933 | -0.9933 | -0.9933 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326101 | + | 5 | 0.9821 | 0.9821 | 0.9821 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326150 | + | 5 | -0.9816 | -0.9816 | -0.9816 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326242 | + | 6 | 0.9794 | 0.9794 | 0.9794 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326282 | + | 6 | -0.9800 | -0.9800 | -0.9800 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326499 | + | 7 | 0.7785 | 0.7785 | 0.7785 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326613 | + | 7 | -0.8122 | -0.8122 | -0.8122 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32329443 | + | 8 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32329492 | + | 8 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32330919 | + | 9 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32331030 | + | 9 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32332272 | + | 10 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32333387 | + | 10 | -0.9923 | -0.9923 | -0.9923 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32336265 | + | 11 | 0.9853 | 0.9853 | 0.9853 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32341196 | + | 11 | -0.9537 | -0.9537 | -0.9537 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32344558 | + | 12 | 0.9792 | 0.9792 | 0.9792 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32344653 | + | 12 | -0.9532 | -0.9532 | -0.9532 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32346827 | + | 13 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32346896 | + | 13 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32354861 | + | 14 | 0.9684 | 0.9684 | 0.9684 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32355288 | + | 14 | -0.9899 | -0.9899 | -0.9899 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32356428 | + | 15 | 0.9468 | 0.9468 | 0.9468 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32356609 | + | 15 | -0.9778 | -0.9778 | -0.9778 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32357742 | + | 16 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32357929 | + | 16 | -0.9786 | -0.9786 | -0.9786 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32362523 | + | 17 | 0.9669 | 0.9669 | 0.9669 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32362693 | + | 17 | -0.9283 | -0.9283 | -0.9283 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32363179 | + | 18 | 0.9838 | 0.9838 | 0.9838 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32363533 | + | 18 | -0.9391 | -0.9391 | -0.9391 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370402 | + | 19 | 0.9880 | 0.9880 | 0.9880 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370557 | + | 19 | -0.9649 | -0.9649 | -0.9649 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370956 | + | 20 | 0.9204 | 0.9204 | 0.9204 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32371100 | + | 20 | -0.9827 | -0.9827 | -0.9827 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32376670 | + | 21 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32376791 | + | 21 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379317 | + | 22 | 0.9898 | 0.9898 | 0.9898 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379515 | + | 22 | -0.9890 | -0.9890 | -0.9890 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379750 | + | 23 | 0.8997 | 0.8997 | 0.8997 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379913 | + | 23 | -0.9329 | -0.9329 | -0.9329 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32380007 | + | 24 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32380145 | + | 24 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32394689 | + | 25 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32394933 | + | 25 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32396898 | + | 26 | 0.9954 | 0.9953 | 0.9954 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32397044 | + | 26 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32398162 | + | 27 | 0.9576 | 0.9576 | 0.9576 | 0.0000 | donor | a0005c0007t0003g0299 | HG03041.hp1 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 32356799:splice 32356799:variant goto | c.7617+190G>A | 264968 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145|MedGen:C3661900 |
+ | 38 | 51 | 87 | 375 | a0001a0002a0003a0004a0005others(33): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(46): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(82): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(370): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(391): Show |
MODIFIER | chr13 | G | A | TogoVar |
| 32371231:splice 32371231:variant goto | c.8632+132dupC | 209815 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145|MedGen:CN169374 |
+ | 1 | 1 | 1 | 3 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0294a0005c0007t0003g0299a0005c0007t0003g0300 | HG01175.hp1 HG03041.hp1 NA20300.hp2 |
MODIFIER | chr13 | T | TC | TogoVar |
| 32326480:splice 32326480:variant goto | c.517-19C>T | 51799 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0015356 MeSH:D009386 MedGen:C0027672 Orphanet:140162|MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0016419 MedGen:C0346153 others(8): Show |
+ | 1 | 1 | 1 | 2 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0299a0005c0007t0003g0300 | HG03041.hp1 NA20300.hp2 |
MODIFIER | chr13 | C | T | TogoVar |
| 32373331:splice 32373331:variant goto | c.8632+2231C>T | 209826 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 1 | 1 | 1 | 2 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0299a0005c0007t0003g0300 | HG03041.hp1 NA20300.hp2 |
MODIFIER | chr13 | C | T | TogoVar |
| 32388406:splice 32388406:variant goto | c.9257-6283A>G | 209881 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 1 | 1 | 1 | 2 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0299a0005c0007t0003g0300 | HG03041.hp1 NA20300.hp2 |
MODIFIER | chr13 | A | G | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:32402503
|
c.*3734_*3736delTTG | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)others(49): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
56,505 European ancestry current drinkers, 9,870 A others(651): Show |
N4BP2L1 | N4BP2L1 | rs753833181-? | + | MODIFIER | chr13 | TTTG | T |
|
chr13:32402503
|
c.*3734_*3736delTTG | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)others(56): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
44,831 European ancestry regular drinkers, 3,976 A others(636): Show |
N4BP2L1 | N4BP2L1 | rs753833181-? | + | MODIFIER | chr13 | TTTG | T |
|
chr13:32402503
|
c.*3734_*3736delTTG | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)others(49): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
56,505 European ancestry current drinkers, 9,870 A others(651): Show |
N4BP2L1 | N4BP2L1 | rs753833181-? | + | MODIFIER | chr13 | TTTG | T |
|
chr13:32402503
|
c.*3734_*3736delTTG | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)others(56): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
44,831 European ancestry regular drinkers, 3,976 A others(636): Show |
N4BP2L1 | N4BP2L1 | rs753833181-? | + | MODIFIER | chr13 | TTTG | T |
|
chr13:32402503
|
c.*3734_*3736delTTG | LDL cholesterol levels in current drinkersothers(7): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Multi-Ancestry Genome-Wide Association Study of Li others(51): Show |
56,505 European ancestry individuals, 9,870 Africa others(277): Show |
N4BP2L1 | N4BP2L1 | rs753833181-? | + | MODIFIER | chr13 | TTTG | T |
|
chr13:32402517
|
c.*3747A>C | Total lipid levels in IDL0.0260129 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Phospholipid levels in IDL0.0272817 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402513
|
c.*3743A>T | Free cholesterol to total lipids ratio in large HDLothers(20): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946987-A | + | MODIFIER | chr13 | A | T | |
|
chr13:32402517
|
c.*3747A>C | Phospholipids in small LDL (UKB data field 23546)others(18): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946991-C | + | MODIFIER | chr13 | A | C | |
|
chr13:32402516
|
c.*3746A>C | Free cholesterol in very small VLDL (UKB data field 23521)others(27): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946990-C | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Phospholipids in IDL (UKB data field 23525)others(11): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946991-C | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Total lipids in IDL (UKB data field 23524)others(11): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946991-C | + | MODIFIER | chr13 | A | C | |
|
chr13:32402514
|
c.*3744G>T | Free cholesterol to total lipids in large HDL percentage (UKB data field 23637)others(48): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946988-T | + | MODIFIER | chr13 | G | T | |
|
chr13:32402517
|
c.*3747A>C | Concentration of large LDL particles (UKB data field 23530)others(28): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946991-C | + | MODIFIER | chr13 | A | C | |
|
chr13:32402514
|
c.*3744G>T | Free cholesterol to total lipids in small HDL percentage (UKB data field 23647)others(48): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Metabolomic Investigation of Major Depressive Diso others(82): Show |
88,329 European ancestry individuals/ | N4BP2L1 | rs61946988-T | + | MODIFIER | chr13 | G | T | |
|
chr13:32402517
|
c.*3747A>C | Total free cholesterol levels0.0238684 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C |
Phospholipid levels in very small VLDL0. others(7): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402508
|
c.*3738T>A | Concentration of very small VLDL particlesothers(11): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946985-T | + | MODIFIER | chr13 | T | A | |
|
chr13:32402517
|
c.*3747A>C | Cholesteryl ester levels in very small VLDLothers(12): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Free cholesterol levels in very small VLDLothers(11): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C |
Total lipid levels in very small VLDL0.0 others(6): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C |
Cholesterol levels in very small VLDL0.0 others(6): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Total cholesterol levels0.0234877 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C |
Total esterified cholesterol levels0.023 others(4): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402508
|
c.*3738T>A |
Concentration of large LDL particles0.02 others(5): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946985-T | + | MODIFIER | chr13 | T | A | |
|
chr13:32402513
|
c.*3743A>T | Free cholesterol levels in LDL0.0239286 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946987-A | + | MODIFIER | chr13 | A | T | |
|
chr13:32402517
|
c.*3747A>C | Cholesterol levels in large LDL0.0248472 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C |
Free cholesterol levels in large LDL0.02 others(5): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Cholesteryl ester levels in IDL0.0239645 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402517
|
c.*3747A>C | Cholesterol levels in IDL0.0240807 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C | |
|
chr13:32402513
|
c.*3743A>T | Free cholesterol levels in IDL0.0238517 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946987-A | + | MODIFIER | chr13 | A | T | |
|
chr13:32402514
|
c.*3744G>T | Free cholesterol to total lipids ratio in small HDLothers(20): Show | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946988-G | + | MODIFIER | chr13 | G | T | |
|
chr13:32402508
|
c.*3738T>A |
Free cholesterol levels in small LDL0.02 others(5): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946985-T | + | MODIFIER | chr13 | T | A | |
|
chr13:32402508
|
c.*3738T>A |
Phospholipid levels in small LDL0.028438 others(1): Show |
a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | N4BP2L1 | rs61946985-T | + | MODIFIER | chr13 | T | A | |
|
chr13:32402517
|
c.*3747A>C | High cholesterol0.04324 | a0001a0002a0004a0005a0007others(16): Show | a0001c0001a0001c0003a0001c0011a0001c0033a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(170): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(175): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
28,037 African American or Afro-Caribbean cases, 2 others(273): Show |
N4BP2L1 | rs61946991-A | + | MODIFIER | chr13 | A | C |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 32400151:splice 32400151:variant goto | BRCA23_prime_UTR_variantc.*1381T>A | ZAR1L Artery_Aorta 4.337 -0.257 | 314368304 | a0001a0002a0003a0004a0005others(26): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(38): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(63): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(299): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 others(314): Show |
0.754 | 196 | 232 | 10 | chr13_32400151_T_A_b38 | + | MODIFIER | chr13 | T | A | TogoVar |
| 32400151:splice 32400151:variant goto | BRCA23_prime_UTR_variantc.*1381T>A | BRCA2 Esophagus_Mucosa 3.953 -0.070 | 314368304 | a0001a0002a0003a0004a0005others(26): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(38): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(63): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(299): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 others(314): Show |
0.761 | 254 | 294 | 10 | chr13_32400151_T_A_b38 | + | MODIFIER | chr13 | T | A | TogoVar |
| 32405001:splice 32405001:variant goto | BRCA2downstream_gene_variantc.*6231T>Cothers(3): Show | BRCA2 Cells_EBV-transformed_lymphocytes 5.729 -0.145 | 263559228 | a0001a0002a0003a0004a0005others(21): Show | a0001c0001a0001c0003a0001c0004a0001c0011a0001c0033others(30): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(223): Show | HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 others(235): Show |
0.466 | 229 | 304 | 10 | chr13_32405001_T_C_b38 | + | MODIFIER | chr13 | T | C | TogoVar |
| 32405001:splice 32405001:variant goto | BRCA2downstream_gene_variantc.*6231T>Cothers(3): Show | N4BP2L1 Esophagus_Gastroesophageal_Junction 4.504 -0.079 | 263559228 | a0001a0002a0003a0004a0005others(21): Show | a0001c0001a0001c0003a0001c0004a0001c0011a0001c0033others(30): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(223): Show | HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 others(235): Show |
0.435 | 269 | 351 | 10 | chr13_32405001_T_C_b38 | + | MODIFIER | chr13 | T | C | TogoVar |
| 32405001:splice 32405001:variant goto | BRCA2downstream_gene_variantc.*6231T>Cothers(3): Show | BRCA2 Lung 5.980 -0.109 | 263559228 | a0001a0002a0003a0004a0005others(21): Show | a0001c0001a0001c0003a0001c0004a0001c0011a0001c0033others(30): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(223): Show | HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 others(235): Show |
0.444 | 395 | 534 | 10 | chr13_32405001_T_C_b38 | + | MODIFIER | chr13 | T | C | TogoVar |
| 32405001:splice 32405001:variant goto | BRCA2downstream_gene_variantc.*6231T>Cothers(3): Show | N4BP2L1 Thyroid 4.167 -0.058 | 263559228 | a0001a0002a0003a0004a0005others(21): Show | a0001c0001a0001c0003a0001c0004a0001c0011a0001c0033others(30): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(223): Show | HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 others(235): Show |
0.445 | 461 | 606 | 10 | chr13_32405001_T_C_b38 | + | MODIFIER | chr13 | T | C | TogoVar |
| 32402519:splice 32402519:variant goto | BRCA2downstream_gene_variantc.*3750delC< others(4): Show |
N4BP2L1 Skin_Sun_Exposed_Lower_leg 4.445 -0.066 | 192234157 | a0001a0002a0005a0007a0010others(14): Show | a0001c0001a0001c0003a0001c0033a0002c0002a0005c0007others(17): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0003t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0184others(152): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 others(157): Show |
0.465 | 536 | 698 | 10 | chr13_32402519_GC_G_b38 | + | MODIFIER | chr13 | GC | G | TogoVar |
