| 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 |
|---|
| 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 |
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 | -0.5705 | -0.5631 | -0.5631 | 0.0074 | acceptor | a0005 | HG03209.hp1 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(2): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32316422 | + | 2 | 0.9398 | 0.9324 | 0.9324 | 0.0074 | donor | a0005 | HG03209.hp1 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(2): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32316527 | + | 2 | -0.9162 | -0.9121 | -0.9100 | 0.0062 | acceptor | a0005 | HG03209.hp1 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32319077 | + | 3 | 0.9788 | 0.9710 | 0.9711 | 0.0077 | donor | a0005 | HG03209.hp1 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(2): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32319325 | + | 3 | -0.9672 | -0.9570 | -0.9568 | 0.0104 | acceptor | a0005 | HG03209.hp1 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32325076 | + | 4 | 0.9819 | 0.9819 | 0.9812 | 0.0007 | donor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG03209.hp1 NA21309.hp2 others(1): Show |
HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32325184 | + | 4 | -0.9933 | -0.9933 | -0.9932 | 0.0001 | acceptor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG03209.hp1 NA21309.hp2 others(1): Show |
HG02723.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326101 | + | 5 | 0.9824 | 0.9823 | 0.9821 | 0.0003 | donor | a0005 | NA20300.hp2 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326150 | + | 5 | -0.9817 | -0.9816 | -0.9815 | 0.0002 | acceptor | a0005 | NA20300.hp2 | HG02723.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326242 | + | 6 | 0.9794 | 0.9794 | 0.9763 | 0.0031 | donor | a0005 | HG02723.hp2 | NA20300.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326282 | + | 6 | -0.9804 | -0.9804 | -0.9784 | 0.0020 | acceptor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG03209.hp1 NA21309.hp2 others(1): Show |
NA20300.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326499 | + | 7 | 0.7857 | 0.7759 | 0.7759 | 0.0098 | donor | a0005 | NA20300.hp2 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG03209.hp1 NA21309.hp2 others(1): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32326613 | + | 7 | -0.8182 | -0.8182 | -0.8080 | 0.0102 | acceptor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03209.hp1 others(2): Show |
NA20300.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32329443 | + | 8 | 0.9952 | 0.9952 | 0.9948 | 0.0004 | donor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(3): Show |
NA20300.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32329492 | + | 8 | -0.9957 | -0.9954 | -0.9954 | 0.0002 | acceptor | a0005 | NA20300.hp2 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(3): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32330919 | + | 9 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32331030 | + | 9 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0005 | NA20300.hp2 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(3): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32332272 | + | 10 | 0.9950 | 0.9950 | 0.9949 | 0.0000 | donor | a0005 | HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 NA20300.hp2 others(2): Show |
HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32333387 | + | 10 | -0.9927 | -0.9923 | -0.9923 | 0.0004 | acceptor | a0005 | HG01175.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32336265 | + | 11 | 0.9862 | 0.9853 | 0.9852 | 0.0010 | donor | a0005 | HG01175.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32341196 | + | 11 | -0.9540 | -0.9537 | -0.9537 | 0.0003 | acceptor | a0005 | NA21309.hp2 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(3): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32344558 | + | 12 | 0.9792 | 0.9792 | 0.9792 | 0.0000 | donor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32344653 | + | 12 | -0.9532 | -0.9532 | -0.9532 | 0.0000 | acceptor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32346827 | + | 13 | 0.9966 | 0.9966 | 0.9965 | 0.0001 | donor | a0005 | HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp1 others(3): Show |
HG01175.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32346896 | + | 13 | -0.9974 | -0.9974 | -0.9973 | 0.0000 | acceptor | a0005 | HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp1 others(3): Show |
HG01175.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32354861 | + | 14 | 0.9684 | 0.9684 | 0.9682 | 0.0003 | donor | a0005 | HG01175.hp1 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32355288 | + | 14 | -0.9902 | -0.9899 | -0.9888 | 0.0014 | acceptor | a0005 | HG02486.hp2 homoSapiens_grch38.hp1 |
NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32356428 | + | 15 | 0.9472 | 0.9470 | 0.9457 | 0.0015 | donor | a0005 | HG02486.hp2 homoSapiens_grch38.hp1 |
NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32356609 | + | 15 | -0.9783 | -0.9778 | -0.9773 | 0.0010 | acceptor | a0005 | HG02486.hp2 homoSapiens_grch38.hp1 |
NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32357742 | + | 16 | 0.9945 | 0.9945 | 0.9944 | 0.0001 | donor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03209.hp1 others(2): Show |
NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32357929 | + | 16 | -0.9786 | -0.9768 | -0.9766 | 0.0020 | acceptor | a0005 | HG03041.hp1 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32362523 | + | 17 | 0.9676 | 0.9673 | 0.9669 | 0.0007 | donor | a0005 | HG02723.hp2 | HG03041.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32362693 | + | 17 | -0.9288 | -0.9283 | -0.9280 | 0.0008 | acceptor | a0005 | HG02723.hp2 | homoSapiens_grch38.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32363179 | + | 18 | 0.9840 | 0.9838 | 0.9837 | 0.0003 | donor | a0005 | NA20300.hp2 | HG02723.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32363533 | + | 18 | -0.9782 | -0.9422 | -0.9343 | 0.0440 | acceptor | a0005 | NA21309.hp2 | homoSapiens_grch38.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370402 | + | 19 | 0.9889 | 0.9882 | 0.9880 | 0.0010 | donor | a0005 | HG02572.hp2 | HG03041.hp1 NA20300.hp2 |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32370557 | + | 19 | -0.9650 | -0.9610 | -0.9607 | 0.0043 | acceptor | a0005 | HG01175.hp1 | HG02486.hp2 HG03209.hp1 NA21309.hp2 homoSapiens_grch38.hp1 |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32370956 | + | 20 | 0.9213 | 0.9209 | 0.9145 | 0.0067 | donor | a0005 | HG02486.hp2 HG03209.hp1 NA21309.hp2 homoSapiens_grch38.hp1 |
HG02723.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32371100 | + | 20 | -0.9864 | -0.9857 | -0.9827 | 0.0037 | acceptor | a0005 | HG02723.hp2 | HG03041.hp1 NA20300.hp2 |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32376670 | + | 21 | 0.9973 | 0.9972 | 0.9973 | 0.0000 | donor | a0005 | HG03041.hp1 NA20300.hp2 |
HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03209.hp1 others(2): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32376791 | + | 21 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0005 | HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03041.hp1 others(4): Show |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32379317 | + | 22 | 0.9898 | 0.9898 | 0.9898 | 0.0000 | donor | a0005 | HG02486.hp2 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379515 | + | 22 | -0.9890 | -0.9890 | -0.9887 | 0.0002 | acceptor | a0005 | HG01175.hp1 HG02572.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp1 others(2): Show |
HG02486.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379750 | + | 23 | 0.9038 | 0.8997 | 0.8996 | 0.0042 | donor | a0005 | HG02486.hp2 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379913 | + | 23 | -0.9338 | -0.9329 | -0.9329 | 0.0009 | acceptor | a0005 | HG02486.hp2 | NA21309.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32380007 | + | 24 | 0.9955 | 0.9955 | 0.9954 | 0.0001 | donor | a0005 | HG01175.hp1 HG02572.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp1 others(2): Show |
HG02486.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32380145 | + | 24 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0005 | HG01175.hp1 HG02572.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp1 others(2): Show |
HG02486.hp2 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32394689 | + | 25 | 0.9970 | 0.9970 | 0.9969 | 0.0000 | donor | a0005 | HG03209.hp1 | HG02486.hp2 HG02723.hp2 HG03041.hp1 NA20300.hp2 |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32394933 | + | 25 | -0.9981 | -0.9980 | -0.9980 | 0.0001 | acceptor | a0005 | HG02486.hp2 HG02723.hp2 HG03041.hp1 NA20300.hp2 |
HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32396898 | + | 26 | 0.9954 | 0.9952 | 0.9951 | 0.0002 | donor | a0005 | HG02486.hp2 HG02723.hp2 HG03041.hp1 NA20300.hp2 |
HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32397044 | + | 26 | -0.9974 | -0.9971 | -0.9971 | 0.0003 | acceptor | a0005 | HG02486.hp2 HG02723.hp2 HG03041.hp1 NA20300.hp2 |
HG01175.hp1 HG02572.hp2 HG03209.hp1 NA21309.hp2 homoSapiens_grch38.hp1 |
BRCA2 | chr13 | 32310508 | 32405268 |
| 32398162 | + | 27 | 0.9584 | 0.9584 | 0.9576 | 0.0008 | donor | a0005 | homoSapiens_grch38.hp1 | HG02723.hp2 HG03041.hp1 NA20300.hp2 |
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 |
| 32338918:splice 32338918:variant goto | c.4563A>Gp.Leu1521Leu | 132779 | Benign | BRCA2:675 | SO:0001819 synonymous_variant |
MONDO:MONDO:0011584 MedGen:C1838457 OMIM:605724 Orphanet:319462|MONDO:MONDO:0012933 MedGen:C2675520 others(12): Show |
+ | 38 | 48 | 84 | 368 | a0001a0002a0003a0004a0005others(33): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(43): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(79): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(363): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(384): Show |
LOW | chr13 | A | G | TogoVar |
| 32315831:splice 32315831:variant goto | c.-40+164G>A | 209930 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 24 | 34 | 60 | 287 | a0001a0002a0003a0004a0005others(19): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(29): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(55): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(282): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(300): Show |
MODIFIER | chr13 | G | A | TogoVar |
| 32314943:splice 32314943:variant goto | c.-764A>G | 209597 | Benign | BRCA2:675 ZAR1L:646799 LOC106721785:106721785 |
SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 3 | 5 | 5 | 10 | a0001a0004a0005 | a0001c0001a0001c0004a0001c0011a0004c0019a0005c0037 | a0001c0001t0008a0001c0004t0012a0001c0011t0004a0004c0019t0016a0005c0037t0003 | a0001c0001t0008g0349a0001c0004t0012g0082a0001c0004t0012g0083a0001c0004t0012g0085a0001c0004t0012g0086others(5): Show | HG01106.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 others(5): Show |
MODIFIER | chr13 | A | G | TogoVar |
| 32395894:splice 32395894:variant goto | c.9501+961T>C | 209912 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 11 | 14 | 20 | 71 | a0001a0002a0004a0005a0010others(6): Show | a0001c0003a0001c0011a0001c0033a0002c0002a0004c0006others(9): Show | a0001c0003t0004a0001c0003t0010a0001c0003t0021a0001c0003t0034a0001c0003t0035others(15): Show | a0001c0003t0004g0013a0001c0003t0004g0074a0001c0003t0004g0075a0001c0003t0004g0206a0001c0003t0004g0207others(66): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp1 others(68): Show |
MODIFIER | chr13 | T | C | 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 |
| 32319240:splice 32319240:variant goto | c.231T>Gp.Thr77Thr | 51269 | Benign | BRCA2:675 | SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013235 MedGen:C3150546 OMIM:613347 Orphanet:1333|MONDO:MONDO:0008679 MedGen:CN033288 others(30): Show |
+ | 1 | 1 | 1 | 1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | HG03209.hp1 | LOW | chr13 | T | G | TogoVar |
| 32333776:splice 32333776:variant goto | c.1909+389C>T | 264961 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 1 | 1 | 1 | 1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | HG03209.hp1 | MODIFIER | chr13 | C | T | TogoVar |
| 32364476:splice 32364476:variant goto | c.8331+943T>G | 264883 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 1 | 1 | 1 | 1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | HG03209.hp1 | MODIFIER | chr13 | T | 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 VLDL others(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 |