| geneid | 9625 |
|---|---|
| ensemblid | ENSG00000181409.14 |
| hgncid | 21 |
| symbol | AATK |
| name | apoptosis associated tyrosine kinase |
| refseq_nuc | NM_001080395.3 |
| refseq_prot | NP_001073864.2 |
| ensembl_nuc | ENST00000326724.9 |
| ensembl_prot | ENSP00000324196.4 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 81117295 |
| end | 81166221 |
| strand | - |
| ver | v1.2 |
| region | chr17:81117295-81166221 |
| region5000 | chr17:81112295-81171221 |
| regionname0 | AATK_chr17_81117295_81166221 |
| regionname5000 | AATK_chr17_81112295_81171221 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81120022
|
A | G | 0.3234 | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
a0002a0004a0007others(7): Show | a0002c0002a0002c0032a0002c0057others(19): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(109): Show | 119 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/14 | c.3797T>C | p.Phe1266Ser | 4026/5461 | 3797/4125 | 1266/1374 | ||
|
chr17:81121829
|
C | A | 0.5408 | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(196): Show |
a0002a0003a0006others(20): Show | a0002c0002a0002c0032a0002c0057others(44): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(53): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(185): Show | 199 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2107G>T | p.Gly703Cys | 2336/5461 | 2107/4125 | 703/1374 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81121344
|
G | A | 0.7935 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0011a0001c0040others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2592C>T | p.Ala864Ala | 2821/5461 | 2592/4125 | 864/1374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | a0002 | 1374 | 76 | 3 | 10 | 47 | 6 | 9 | subcellular location copy fasta | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | c0002 | 4125 | 70 | 3 | 9 | 45 | 6 | 6 | copy fasta | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 0/1 | a0002c0002 | 70 | 3 | 9 | 45 | 6 | 6 | 4125 | copy fasta | chr17 | 81112295 | 81171221 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 81165938 | - | 1 | -0.8525 | -0.8387 | -0.8002 | 0.0522 | acceptor | a0002c0002 | HG01346.hp2 | HG00609.hp1 HG02683.hp2 NA18747.hp1 NA18945.hp1 NA19010.hp1 others(1): Show |
AATK | chr17 | 81112295 | 81171221 |
| 81134368 | - | 2 | -0.9736 | -0.9713 | -0.9708 | 0.0028 | acceptor | a0002c0002 | HG02257.hp2 HG02735.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1 |
HG02145.hp1 HG06807.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81134501 | - | 2 | 0.9880 | 0.9864 | 0.9851 | 0.0030 | donor | a0002c0002 | NA18979.hp1 | HG00099.hp1 HG00733.hp1 HG01081.hp2 HG01167.hp1 HG01346.hp2 others(1): Show |
AATK | chr17 | 81112295 | 81171221 |
| 81131061 | - | 3 | -0.9953 | -0.9951 | -0.9945 | 0.0008 | acceptor | a0002c0002 | HG02683.hp2 | HG00099.hp1 HG00733.hp1 HG01081.hp2 HG01993.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81131205 | - | 3 | 0.9781 | 0.9770 | 0.9766 | 0.0016 | donor | a0002c0002 | NA19074.hp2 | HG02602.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81128470 | - | 4 | -0.9993 | -0.9989 | -0.9989 | 0.0004 | acceptor | a0002c0002 | HG02027.hp1 NA18949.hp2 NA18954.hp2 NA19007.hp2 NA19010.hp1 |
NA18940.hp2 NA18952.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81128549 | - | 4 | 0.9930 | 0.9928 | 0.9922 | 0.0009 | donor | a0002c0002 | NA18949.hp2 NA18954.hp2 NA19007.hp2 |
NA18940.hp2 NA18952.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81127792 | - | 5 | -0.9872 | -0.9870 | -0.9832 | 0.0040 | acceptor | a0002c0002 | NA19066.hp2 | HG02165.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81127910 | - | 5 | 0.9968 | 0.9963 | 0.9963 | 0.0006 | donor | a0002c0002 | HG02071.hp2 | HG01515.hp2 HG01517.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81127583 | - | 6 | -0.9983 | -0.9983 | -0.9983 | 0.0001 | acceptor | a0002c0002 | HG01167.hp1 HG01346.hp2 HG02027.hp1 NA18949.hp2 NA18954.hp2 others(2): Show |
NA19066.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81127670 | - | 6 | 0.9963 | 0.9962 | 0.9957 | 0.0007 | donor | a0002c0002 | HG02165.hp1 | NA18940.hp2 NA18952.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81126427 | - | 7 | -0.9992 | -0.9992 | -0.9991 | 0.0001 | acceptor | a0002c0002 | HG00673.hp1 HG01099.hp2 HG01261.hp2 HG01358.hp1 HG02155.hp2 others(2): Show |
HG00099.hp1 HG00733.hp1 HG01081.hp2 HG01167.hp1 HG01346.hp2 others(6): Show |
AATK | chr17 | 81112295 | 81171221 |
| 81126560 | - | 7 | 0.9981 | 0.9980 | 0.9979 | 0.0002 | donor | a0002c0002 | HG02027.hp1 | HG01515.hp2 HG01517.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81124930 | - | 8 | -0.9929 | -0.9918 | -0.9917 | 0.0012 | acceptor | a0002c0002 | HG00099.hp1 HG00733.hp1 HG01081.hp2 HG01167.hp1 HG01346.hp2 others(5): Show |
HG02683.hp1 HG03942.hp2 |
AATK | chr17 | 81112295 | 81171221 |
| 81125014 | - | 8 | 0.9945 | 0.9904 | 0.9904 | 0.0042 | donor | a0002c0002 | HG01081.hp2 | HG01099.hp2 HG01261.hp2 HG01358.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81124727 | - | 9 | -0.9988 | -0.9986 | -0.9986 | 0.0002 | acceptor | a0002c0002 | HG02683.hp1 HG03942.hp2 |
HG02071.hp2 NA19010.hp2 |
AATK | chr17 | 81112295 | 81171221 |
| 81124848 | - | 9 | 0.9994 | 0.9993 | 0.9991 | 0.0003 | donor | a0002c0002 | HG00673.hp1 HG01099.hp2 HG01261.hp2 HG01358.hp1 HG02155.hp2 others(2): Show |
HG00099.hp1 HG00733.hp1 HG01081.hp2 HG01167.hp1 HG01346.hp2 others(5): Show |
AATK | chr17 | 81112295 | 81171221 |
| 81123194 | - | 10 | -0.9930 | -0.9925 | -0.9925 | 0.0005 | acceptor | a0002c0002 | HG00673.hp1 HG01099.hp2 HG01261.hp2 HG01358.hp1 HG02155.hp2 others(2): Show |
HG02602.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81123343 | - | 10 | 0.9964 | 0.9964 | 0.9961 | 0.0003 | donor | a0002c0002 | HG02602.hp1 HG02683.hp1 HG03942.hp2 NA19007.hp2 NA19082.hp1 |
NA18949.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81120201 | - | 11 | -0.9933 | -0.9921 | -0.9917 | 0.0016 | acceptor | a0002c0002 | HG02071.hp2 | HG02257.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81122823 | - | 11 | 0.9939 | 0.9939 | 0.9935 | 0.0004 | donor | a0002c0002 | HG02080.hp2 HG02602.hp1 |
NA18949.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81119936 | - | 12 | -0.9673 | -0.9626 | -0.9623 | 0.0050 | acceptor | a0002c0002 | HG02683.hp1 | NA19010.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81120083 | - | 12 | 0.9299 | 0.9246 | 0.9153 | 0.0146 | donor | a0002c0002 | HG02257.hp2 | HG02071.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81119380 | - | 13 | -0.9915 | -0.9911 | -0.9881 | 0.0034 | acceptor | a0002c0002 | HG01261.hp2 | HG02071.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81119580 | - | 13 | 0.9928 | 0.9924 | 0.9902 | 0.0026 | donor | a0002c0002 | HG02683.hp1 | HG02071.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81118442 | - | 14 | 0.9584 | 0.9486 | 0.9445 | 0.0139 | donor | a0002c0002 | HG02683.hp1 | NA19074.hp2 | AATK | chr17 | 81112295 | 81171221 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81144773
|
c.56-10272A>G | Obesity-related traits0.04 | a0001a0002a0003a0004a0005others(18): Show | a0001c0001a0001c0004a0001c0011a0002c0002a0002c0032others(33): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016a0001c0004t0002a0001c0011t0001others(40): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0119others(135): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 others(149): Show |
Novel genetic loci identified for the pathophysiol others(52): Show |
815 Hispanic children from 263 families/ | AATK | AATK | rs7220048-G | - | MODIFIER | chr17 | T | C |
|
chr17:81113737
|
c.*4665C>G | Body mass index0.014 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Meta-analysis of genome-wide association studies f others(69): Show |
434,794 European ancestry female individuals/ | AATK, BAIAP2 | rs4076427-C | - | MODIFIER | chr17 | G | C | |
|
chr17:81118663
|
c.4085-221G>A | Height | a0002a0004a0006a0007a0010others(6): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(18): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(24): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(108): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(115): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
AATK | rs62073017-? | - | MODIFIER | chr17 | C | T | |
|
chr17:81116398
|
c.*2004G>A | Neuroticism5.633 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Meta-analysis of genome-wide association studies f others(81): Show |
449,484 European ancestry individuals/ | NR | BAIAP2, AATK | rs62073016-T | - | MODIFIER | chr17 | C | T |
|
chr17:81163152
|
c.55+2786G>T | Systolic blood pressure | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(16): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002a0001c0004t0006a0001c0040t0001others(20): Show | a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098a0001c0001t0001g0103others(84): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00558.hp1 others(88): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 422,000 European ancestry individual others(2): Show |
AATK | rs2859612-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81120022
|
c.3797T>Cp.Phe1266Ser | Appendicular lean mass0.022 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
The genetic architecture of appendicular lean mass others(63): Show |
450,243 European ancestry individuals/ | AATK | AATK | rs36000545-A | - | MODERATE | chr17 | A | G |
|
chr17:81120022
|
c.3797T>Cp.Phe1266Ser | Appendicular lean mass0.02 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
The genetic architecture of appendicular lean mass others(63): Show |
205,513 European ancestry men/ | AATK | AATK | rs36000545-A | - | MODERATE | chr17 | A | G |
|
chr17:81120022
|
c.3797T>Cp.Phe1266Ser | Appendicular lean mass0.02 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
The genetic architecture of appendicular lean mass others(63): Show |
244,730 European ancestry women/ | AATK | AATK | rs36000545-A | - | MODERATE | chr17 | A | G |
|
chr17:81116648
|
c.*1754G>T | Lifetime major depressive disorder (MTAG)others(12): Show | a0001a0002a0003a0004a0005others(27): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0066others(57): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0016others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(287): Show |
Phenotype integration improves power and preserves others(75): Show |
282,558 European ancestry individuals (MTAG effect others(81): Show |
AATK, BAIAP2 | rs6565535-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81116648
|
c.*1754G>T | Lifetime major depressive disorder (MTAG)others(11): Show | a0001a0002a0003a0004a0005others(27): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0066others(57): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0016others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(287): Show |
Phenotype integration improves power and preserves others(75): Show |
262,199 European ancestry individuals (MTAG effect others(106): Show |
AATK, BAIAP2 | rs6565535-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81138800
|
c.56-4301_56-4300dupTG | Adipsin levels0.256 | a0001a0002a0003a0004a0005others(28): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0060others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0009a0001c0001t0013others(84): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(323): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
Genome-wide analyses of multiple obesity-related c others(64): Show |
1,510 Sub-Saharan African ancestry men/724 African others(13): Show |
AATK | rs201442880-A | - | MODIFIER | chr17 | C | CCA | |
|
chr17:81123969
|
c.963-626A>C | Neuroticism0.01609482 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0066a0002c0002a0003c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002a0001c0004t0006a0001c0066t0001others(30): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234a0001c0004t0002g0039a0001c0004t0002g0040others(79): Show | HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 others(81): Show |
Multivariate genome-wide analyses of the well-bein others(11): Show |
523,783 European ancestry individuals/59,206 Europ others(24): Show |
NR | AATK | rs66530963-G | - | MODIFIER | chr17 | T | G |
|
chr17:81123969
|
c.963-626A>C | Depressive symptoms0.010244516 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0066a0002c0002a0003c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002a0001c0004t0006a0001c0066t0001others(30): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234a0001c0004t0002g0039a0001c0004t0002g0040others(79): Show | HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 others(81): Show |
Multivariate genome-wide analyses of the well-bein others(11): Show |
1,067,913 European ancestry individuals/228,033 Eu others(27): Show |
NR | AATK | rs66530963-G | - | MODIFIER | chr17 | T | G |
|
chr17:81123969
|
c.963-626A>C | Life satisfaction0.013149287 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0066a0002c0002a0003c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002a0001c0004t0006a0001c0066t0001others(30): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234a0001c0004t0002g0039a0001c0004t0002g0040others(79): Show | HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 others(81): Show |
Multivariate genome-wide analyses of the well-bein others(11): Show |
80,852 European ancestry individuals/ | NR | AATK | rs66530963-G | - | MODIFIER | chr17 | T | G |
|
chr17:81121829
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c.2107G>Tp.Gly703Cys | Age at first sexual intercourse0.0129437 | a0002a0003a0006a0008a0009others(18): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(42): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(51): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(183): Show | HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 others(194): Show |
Identification of 371 genetic variants for age at others(54): Show |
397,338 European ancestry individuals/ | AATK | AATK | rs7503604-C | - | MODERATE | chr17 | C | A |
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chr17:81158174
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c.55+7764C>T | Intestinal permeability measurement0.1 | a0001a0002a0003a0004a0005others(11): Show | a0001c0001a0001c0004a0001c0011a0002c0002a0002c0073others(22): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001a0002c0002t0001a0002c0002t0007others(25): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0119a0001c0001t0001g0120others(85): Show | HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(94): Show |
Analysis of Genetic Association of Intestinal Perm others(76): Show |
1,075 European ancestry first-degree relatives of others(28): Show |
AATK | AATK | rs11650927-A | - | MODIFIER | chr17 | G | A |
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chr17:81113737
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c.*4665C>G | Height0.0154322 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
A Genomics England haplotype reference panel and i others(24): Show |
404,900 European ancestry individuals/ | AATK, BAIAP2 | rs4076427-? | - | MODIFIER | chr17 | G | C | |
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chr17:81116398
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c.*2004G>A | Fat-free mass0.16136 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Genomics of body fat percentage may contribute to others(29): Show |
70,700 European ancestry female individuals, 85,26 others(37): Show |
NR | BAIAP2, AATK | rs62073016-? | - | MODIFIER | chr17 | C | T |
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chr17:81116398
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c.*2004G>A | Fat-free mass0.14239 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Genomics of body fat percentage may contribute to others(29): Show |
70,700 European ancestry female individuals, 85,26 others(37): Show |
NR | BAIAP2, AATK | rs62073016-? | - | MODIFIER | chr17 | C | T |
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chr17:81116398
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c.*2004G>A | Fat-free mass0.14845 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Genomics of body fat percentage may contribute to others(29): Show |
70,700 European ancestry female individuals, 85,26 others(37): Show |
NR | BAIAP2, AATK | rs62073016-? | - | MODIFIER | chr17 | C | T |
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chr17:81151316
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c.55+14622G>C | Neutrophil count0.013225 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0060others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(44): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093others(161): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(169): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
519,288 European ancestry individuals/ | NR | AATK | rs59549421-G | - | MODIFIER | chr17 | C | G |
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chr17:81120022
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c.3797T>Cp.Phe1266Ser | Whole body fat free mass (UKB data field 23101)others(16): Show | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
New role of fat-free mass in cancer risk linked wi others(26): Show |
337,739 European ancestry individuals/ | AATK | rs36000545-G | - | MODERATE | chr17 | A | G | |
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chr17:81130962
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c.334+99G>A | Height0.0067 | a0001a0002a0003a0006a0007others(10): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0022others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(155): Show | HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(167): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AATK | rs8073182-T | - | MODIFIER | chr17 | C | T | |
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chr17:81113737
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c.*4665C>G | Body surface area0.00328812 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Body surface area is a potential obesity index: It others(66): Show |
337,198 British ancestry individuals/ | AATK, BAIAP2 | rs4076427-? | - | MODIFIER | chr17 | G | C | |
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chr17:81116398
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c.*2004G>A | Height0.0117 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
A cross-population atlas of genetic associations f others(24): Show |
360,388 European ancestry individuals, 165,056 Eas others(29): Show |
BAIAP2, AATK | rs62073016-T | - | MODIFIER | chr17 | C | T | |
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chr17:81113737
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c.*4665C>G | Weight0.0156 | a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
A cross-population atlas of genetic associations f others(24): Show |
360,116 European ancestry individuals, 165,419 Eas others(29): Show |
AATK, BAIAP2 | rs4076427-C | - | MODIFIER | chr17 | G | C | |
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chr17:81149196
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c.56-14695C>A | Neutrophil count0.013491505 | a0001a0002a0003a0004a0005others(11): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(32): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098others(118): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(124): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AATK | AATK | rs4969405-T | - | MODIFIER | chr17 | G | T |
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chr17:81149196
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c.56-14695C>A |
Neutrophil percentage of white cells0.01 others(7): Show |
a0001a0002a0003a0004a0005others(11): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(32): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098others(118): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(124): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AATK | AATK | rs4969405-T | - | MODIFIER | chr17 | G | T |
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chr17:81149335
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c.56-14834G>A |
Lymphocyte percentage of white cells0.01 others(7): Show |
a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(38): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098others(127): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(134): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AATK | AATK | rs4969407-T | - | MODIFIER | chr17 | C | T |
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chr17:81116398
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c.*2004G>A |
Weight (maximum, inv-normal transformed) others(7): Show |
a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0017a0002c0002t0018a0002c0032t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(105): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(112): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
119,284 African American or Afro-Caribbean individ others(130): Show |
BAIAP2, AATK | rs62073016-C | - | MODIFIER | chr17 | C | T | |
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chr17:81120022
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c.3797T>Cp.Phe1266Ser |
Impedance of arm left (UKB data field 23110)< others(16): Show |
a0002a0004a0007a0010a0011others(5): Show | a0002c0002a0002c0032a0002c0057a0002c0061a0002c0064others(17): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007a0002c0002t0017a0002c0002t0018others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0031others(107): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 others(114): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | AATK | rs36000545-G | - | MODERATE | chr17 | A | G |