| geneid | 53 |
|---|---|
| ensemblid | ENSG00000134575.13 |
| hgncid | 123 |
| symbol | ACP2 |
| name | acid phosphatase 2, lysosomal |
| refseq_nuc | NM_001610.4 |
| refseq_prot | NP_001601.1 |
| ensembl_nuc | ENST00000672073.1 |
| ensembl_prot | ENSP00000500291.1 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 47239302 |
| end | 47248814 |
| strand | - |
| ver | v1.2 |
| region | chr11:47239302-47248814 |
| region5000 | chr11:47234302-47253814 |
| regionname0 | ACP2_chr11_47239302_47248814 |
| regionname5000 | ACP2_chr11_47234302_47253814 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP2 | 1/0 | a0002 | 423 | 159 | 34 | 44 | 49 | 9 | 22 | subcellular location copy fasta | chr11 | 47234302 | 47253814 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 47248676 | - | 1 | -0.6509 | -0.6462 | -0.6101 | 0.0408 | acceptor | a0002 | HG02293.hp1 | NA18968.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47248038 | - | 2 | -0.8378 | -0.8315 | -0.8193 | 0.0185 | acceptor | a0002 | HG00323.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 others(9): Show |
HG01934.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47248133 | - | 2 | 0.8741 | 0.8704 | 0.8467 | 0.0274 | donor | a0002 | HG02965.hp1 HG02976.hp2 |
HG01934.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47247641 | - | 3 | -0.9949 | -0.9947 | -0.9945 | 0.0005 | acceptor | a0002 | HG03139.hp1 | HG01934.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47247727 | - | 3 | 0.9925 | 0.9923 | 0.9895 | 0.0029 | donor | a0002 | HG03139.hp2 | HG01934.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47245682 | - | 4 | -0.9992 | -0.9992 | -0.9991 | 0.0001 | acceptor | a0002 | HG01192.hp2 | HG00099.hp1 HG00609.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp2 others(23): Show |
ACP2 | chr11 | 47234302 | 47253814 |
| 47245834 | - | 4 | 0.9969 | 0.9957 | 0.9930 | 0.0039 | donor | a0002 | HG03139.hp1 | HG02922.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47245474 | - | 5 | -0.9662 | -0.9645 | -0.9598 | 0.0064 | acceptor | a0002 | HG03139.hp1 | NA18968.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47245572 | - | 5 | 0.9965 | 0.9963 | 0.9961 | 0.0004 | donor | a0002 | HG01192.hp2 | HG00323.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 others(13): Show |
ACP2 | chr11 | 47234302 | 47253814 |
| 47245305 | - | 6 | -0.9950 | -0.9941 | -0.9937 | 0.0013 | acceptor | a0002 | HG02615.hp2 | HG03139.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47245394 | - | 6 | 0.9173 | 0.9067 | 0.9006 | 0.0167 | donor | a0002 | HG00323.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 others(13): Show |
NA18968.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47244735 | - | 7 | -0.9910 | -0.9906 | -0.9904 | 0.0006 | acceptor | a0002 | HG01192.hp2 | HG02615.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47244867 | - | 7 | 0.9217 | 0.9161 | 0.8998 | 0.0219 | donor | a0002 | HG02615.hp2 | HG01192.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47243239 | - | 8 | -0.9961 | -0.9959 | -0.9958 | 0.0004 | acceptor | a0002 | HG02280.hp1 | NA18943.hp2 NA18980.hp2 NA19003.hp1 NA19081.hp1 NA19082.hp2 |
ACP2 | chr11 | 47234302 | 47253814 |
| 47243321 | - | 8 | 0.9978 | 0.9977 | 0.9976 | 0.0002 | donor | a0002 | HG01515.hp1 HG02809.hp2 NA19056.hp2 NA19081.hp2 |
NA18968.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47243018 | - | 9 | -0.9985 | -0.9982 | -0.9982 | 0.0003 | acceptor | a0002 | HG02922.hp2 HG03453.hp2 |
HG01433.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47243124 | - | 9 | 0.9992 | 0.9990 | 0.9989 | 0.0003 | donor | a0002 | HG02280.hp1 | HG01192.hp2 HG01515.hp1 |
ACP2 | chr11 | 47234302 | 47253814 |
| 47242723 | - | 10 | -0.9903 | -0.9886 | -0.9878 | 0.0025 | acceptor | a0002 | HG01515.hp1 | HG02280.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 47242898 | - | 10 | 0.9972 | 0.9970 | 0.9968 | 0.0004 | donor | a0002 | HG02922.hp2 HG03453.hp2 |
HG02735.hp2 | ACP2 | chr11 | 47234302 | 47253814 |
| 47240249 | - | 11 | 0.6741 | 0.6524 | 0.5372 | 0.1369 | donor | a0002 | HG02451.hp2 NA18962.hp1 NA19063.hp1 |
HG02280.hp1 | ACP2 | chr11 | 47234302 | 47253814 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 47234352:splice 47234352:variant goto | c.*5764T>C | 1234248 | Benign | DDB2:1643 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 7 | 9 | 13 | 82 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0003a0002c0002a0002c0008a0003c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(77): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(346): Show |
MODIFIER | chr11 | A | G | TogoVar |
| 47238768:splice 47238768:variant goto | c.*1348T>C | 1182792 | Benign | DDB2:1643 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0010213 MedGen:C1848411 OMIM:278740 Orphanet:910 |
- | 4 | 5 | 7 | 57 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0002c0002a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(52): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(192): Show |
MODIFIER | chr11 | A | G | TogoVar |
| 47238721:splice 47238721:variant goto | c.*1395A>G | 1288463 | Benign | DDB2:1643 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 5 | 7 | 55 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0002c0002a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(50): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(190): Show |
MODIFIER | chr11 | T | C | TogoVar |
| 47238591:splice 47238591:variant goto | c.*1525C>G | 1234331 | Benign | DDB2:1643 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 3 | 6 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0062a0001c0001t0005g0063a0002c0002t0001g0001others(1): Show | HG00280.hp2 HG00438.hp2 HG00642.hp2 HG01070.hp1 HG01081.hp1 others(26): Show |
MODIFIER | chr11 | G | C | TogoVar |
| 47238117:splice 47238117:variant goto | c.*1999A>G | 1237094 | Benign | DDB2:1643 | SO:0001627 intron_variant |
MONDO:MONDO:0010213 MedGen:C1848411 OMIM:278740 Orphanet:910|MedGen:C3661900 |
- | 4 | 4 | 6 | 24 | a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
MODIFIER | chr11 | T | C | TogoVar |
| 47234792:splice 47234792:variant goto | c.*5324C>T | 304919 | Benign/Likely_benign | DDB2:1643 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0010213 MedGen:C1848411 OMIM:278740 Orphanet:910 |
- | 1 | 1 | 2 | 2 | a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0001a0002c0002t0002g0004 | HG01175.hp2 HG01261.hp1 |
MODIFIER | chr11 | G | A | TogoVar |
| 47235283:splice 47235283:variant goto | c.*4833G>A | 749088 | Likely_benign | DDB2:1643 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | HG02451.hp2 | MODIFIER | chr11 | C | T | TogoVar |
| 47234438:splice 47234438:variant goto | c.*5678G>A | 1197220 | Likely_benign | DDB2:1643 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004a0002c0002t0002g0077 | HG02965.hp1 HG02976.hp2 HG03139.hp1 |
MODIFIER | chr11 | C | T | TogoVar |
| 47234614:splice 47234614:variant goto | c.*5502A>G | 712077 | Likely_benign | DDB2:1643 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MONDO:MONDO:0019600 MedGen:C0043346 Orphanet:910|MedGen:C3661900 |
- | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0019 | HG02896.hp2 HG02897.hp2 |
MODIFIER | chr11 | T | C | TogoVar |
| 47240140:splice 47240140:variant goto | c.1248C>Tp.Val416Val | 776606 | Benign | ACP2:53 | SO:0001819 synonymous_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0082 | HG02280.hp1 | LOW | chr11 | G | A | TogoVar |
| 47243128:splice 47243128:variant goto | c.856-4G>A | 776607 | Benign | ACP2:53 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0082 | HG02280.hp1 | LOW | chr11 | C | T | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:47253513
|
c.-4724C>T | Metabolic syndrome0.08 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Genome-wide screen for metabolic syndrome suscepti others(136): Show |
2,637 European ancestry cases, 7,927 European ance others(14): Show |
NR1H3 | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A |
|
chr11:47238768
|
c.*1348T>C | HDL cholesterol levels x long total sleep time interaction (2df test)others(37): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0002c0002a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(52): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(192): Show |
Multi-ancestry sleep-by-SNP interaction analysis i others(70): Show |
2,933 African American long sleepers, 364 Chinese others(617): Show |
MADD | DDB2 | rs901746-? | - | MODIFIER | chr11 | A | G |
|
chr11:47253513
|
c.-4724C>T | Triglyceride levels0.026 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Polygenic Hyperlipidemias and Coronary Artery Dise others(9): Show |
324,694 British ancestry individuals/ | NR1H3 | NR1H3 | rs10838681-? | - | MODIFIER | chr11 | G | A |
|
chr11:47253513
|
c.-4724C>T | Intraocular pressure0.124 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Genome-wide analyses identify 68 new loci associat others(89): Show |
139,555 European ancestry individuals/ | NR1H3 | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A |
|
chr11:47238117
|
c.*1999A>G | HDL cholesterol x physical activity interaction (2df test)others(18): Show | a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
Multi-ancestry study of blood lipid levels identif others(49): Show |
7,395 African American inactive individuals, 13,09 others(871): Show |
NR | DDB2 | rs326222-T | - | MODIFIER | chr11 | T | C |
|
chr11:47238117
|
c.*1999A>G | Triglyceride levels0.0252299 | a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
Evaluating the relationship between circulating li others(123): Show |
441,016 European ancestry individuals/ | DDB2 | DDB2 | rs326222-T | - | MODIFIER | chr11 | T | C |
|
chr11:47251195
|
c.-2406T>C | Metabolic syndrome | a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0003a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0062a0001c0001t0005g0063a0001c0003t0003g0008others(3): Show | HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp2 others(42): Show |
Multivariate genomic analysis of 5million people e others(82): Show |
1,384,348 European ancestry individuals/ | NR1H3 | rs12575157-? | - | MODIFIER | chr11 | A | G | |
|
chr11:47238768
|
c.*1348T>C | HDL cholesterol levels x short total sleep time interaction (2df test)others(38): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0002c0002a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(52): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(192): Show |
Multi-ancestry sleep-by-SNP interaction analysis i others(70): Show |
3,007 African American short sleepers, 369 Chinese others(626): Show |
MADD | DDB2 | rs901746-? | - | MODIFIER | chr11 | A | G |
|
chr11:47253513
|
c.-4724C>T |
High density lipoprotein cholesterol levels others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Genetic analyses of diverse populations improves d others(28): Show |
10,085 African American individuals, 17,751 Hispan others(159): Show |
NR | NR1H3 | rs10838681-? | - | MODIFIER | chr11 | G | A |
|
chr11:47253513
|
c.-4724C>T | Clear cell renal cell carcinoma0.91 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Multi-ancestry genome-wide association study of ki others(49): Show |
752,817 European ancestry individuals, 3,526 Afric others(88): Show |
NR1H3 | rs10838681-A | - | MODIFIER | chr11 | G | A | |
|
chr11:47253513
|
c.-4724C>T |
High density lipoprotein cholesterol levels others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
A large electronic-health-record-based genome-wide others(23): Show |
76,627 European ancestry individuals, 7,795 Hispan others(128): Show |
NR | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A |
|
chr11:47253513
|
c.-4724C>T |
High density lipoprotein cholesterol levels others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
A large electronic-health-record-based genome-wide others(23): Show |
76,627 European ancestry individuals, 7,795 Hispan others(128): Show |
NR | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A |
|
chr11:47246759
|
c.297+882G>A | Hip index0.0193536 | a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0001a0005c0006t0001a0006c0007t0001 | a0002c0002t0001g0001a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0032others(9): Show | HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 others(86): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
219,872 British ancestry women/ | ACP2 | ACP2 | rs35677603-T | - | MODIFIER | chr11 | C | T |
|
chr11:47242504
|
c.1138+219C>T | Folate levels0.236 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | HG02735.hp2 |
Genetic architecture of routinely acquired blood t others(37): Show |
38,000 South Asian ancestry individuals/ | ACP2 | rs560483703-A | - | MODIFIER | chr11 | G | A | |
|
chr11:47238117
|
c.*1999A>G |
Triglyceride to HDL cholesterol ratio0.0 others(3): Show |
a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
Comprehensive genetic study of the insulin resista others(38): Show |
185,749 European ancestry individuals/ | DDB2 | rs326222-C | - | MODIFIER | chr11 | T | C | |
|
chr11:47238117
|
c.*1999A>G |
Triglyceride to HDL cholesterol ratio0.0 others(3): Show |
a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
Comprehensive genetic study of the insulin resista others(38): Show |
402,398 European ancestry individuals/ | DDB2 | rs326222-C | - | MODIFIER | chr11 | T | C | |
|
chr11:47253513
|
c.-4724C>T | Triglycerides to total lipids ratio in very large HDLothers(22): Show | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,056 European ancestry individuals/ | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A | |
|
chr11:47238117
|
c.*1999A>G |
Triglyceride to HDL cholesterol ratio0.0 others(3): Show |
a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
Comprehensive genetic study of the insulin resista others(38): Show |
216,649 European ancestry individuals/ | DDB2 | rs326222-C | - | MODIFIER | chr11 | T | C | |
|
chr11:47253513
|
c.-4724C>T |
Ratio of triglycerides to phosphoglycerides others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,006 European ancestry individuals/ | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A | |
|
chr11:47246759
|
c.297+882G>A | Insomnia0.006 | a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0001a0005c0006t0001a0006c0007t0001 | a0002c0002t0001g0001a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0032others(9): Show | HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 others(86): Show |
Genome-wide meta-analysis of insomnia prioritizes others(57): Show |
593,724 European ancestry cases, 1,771,286 Europea others(20): Show |
ACP2 | rs35677603-T | - | MODIFIER | chr11 | C | T | |
|
chr11:47243992
|
c.773-671A>G | Cholesteryl esters to total lipids ratio in large HDLothers(19): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0002c0002a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(52): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(192): Show |
Genome-wide characterization of circulating metabo others(15): Show |
4,435 East Asian ancestry individuals, 11,340 Sout others(68): Show |
ACP2 | rs7109203-T | - | MODIFIER | chr11 | T | C | |
|
chr11:47243992
|
c.773-671A>G | Total cholesterol to total lipids ratio in large HDLothers(18): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0002c0002a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(52): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(192): Show |
Genome-wide characterization of circulating metabo others(15): Show |
4,435 East Asian ancestry individuals, 11,340 Sout others(68): Show |
ACP2 | rs7109203-T | - | MODIFIER | chr11 | T | C | |
|
chr11:47253513
|
c.-4724C>T | Free cholesterol to total lipids ratio in large LDLothers(20): Show | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A | |
|
chr11:47253513
|
c.-4724C>T | Triglyceride levels (MTAG)0.0289 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Pleiotropic genetic architecture and novel loci fo others(28): Show |
361,194 European ancestry individuals/ | NR1H3 | rs10838681-A | - | MODIFIER | chr11 | G | A | |
|
chr11:47246759
|
c.297+882G>A | BMI (standard GWA)0.074152 | a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0001a0005c0006t0001a0006c0007t0001 | a0002c0002t0001g0001a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0032others(9): Show | HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 others(86): Show |
Participation bias in the UK Biobank distorts gene others(41): Show |
283,749 European ancestry individuals/ | ACP2 | rs35677603-T | - | MODIFIER | chr11 | C | T | |
|
chr11:47246759
|
c.297+882G>A | Body mass index0.0147117 | a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0001a0005c0006t0001a0006c0007t0001 | a0002c0002t0001g0001a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0032others(9): Show | HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 others(86): Show |
Genetic evidence that high BMI in childhood has a others(146): Show |
441,761 European ancestry individuals/ | ACP2 | rs35677603-C | - | MODIFIER | chr11 | C | T | |
|
chr11:47251028
|
c.-2239T>C | Triglyceride levels | a0001a0002a0004 | a0001c0001a0001c0003a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(47): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(182): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
40,963 South Asian ancestry individuals, 48,057 Hi others(157): Show |
NR1H3 | rs3758669-? | - | MODIFIER | chr11 | A | G | |
|
chr11:47253513
|
c.-4724C>T |
Triglyceride levels in small HDL0.025610 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
115,082 European ancestry individuals/ | NR1H3 | rs10838681-G | - | MODIFIER | chr11 | G | A | |
|
chr11:47251028
|
c.-2239T>C | Triglyceride levels0.0230282 | a0001a0002a0004 | a0001c0001a0001c0003a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0001c0003t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(47): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 others(182): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
1,320,016 European ancestry individuals/ | NR1H3 | rs3758669-G | - | MODIFIER | chr11 | A | G | |
|
chr11:47253513
|
c.-4724C>T | Triglyceride levels in non-type 2 diabetesothers(2): Show | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
Genome-wide discovery for diabetes-dependent trigl others(25): Show |
402,944 European ancestry individuals/ | NR1H3 | rs10838681-? | - | MODIFIER | chr11 | G | A | |
|
chr11:47253513
|
c.-4724C>T | Triglycerides0.0219 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
A cross-population atlas of genetic associations f others(24): Show |
343,992 European ancestry individuals, 111,667 Eas others(29): Show |
NR1H3 | rs10838681-A | - | MODIFIER | chr11 | G | A | |
|
chr11:47238117
|
c.*1999A>G | triglyceride (mean, inv-norm transformed)others(8): Show | a0002a0005a0006a0007 | a0002c0002a0005c0006a0006c0007a0007c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0006a0005c0006t0001a0006c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0014a0002c0002t0001g0026a0002c0002t0001g0027others(19): Show | HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp2 others(148): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
107,730 African American or Afro-Caribbean individ others(130): Show |
DDB2 | rs326222-T | - | MODIFIER | chr11 | T | C | |
|
chr11:47253513
|
c.-4724C>T | Triglyceride levels (UKB data field 30870)others(13): Show | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(44): Show | HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | NR1H3 | rs10838681-A | - | MODIFIER | chr11 | G | A |