| geneid | 91703 |
|---|---|
| ensemblid | ENSG00000132744.8 |
| hgncid | 24104 |
| symbol | ACY3 |
| name | aminoacylase 3 |
| refseq_nuc | NM_080658.2 |
| refseq_prot | NP_542389.1 |
| ensembl_nuc | ENST00000255082.8 |
| ensembl_prot | ENSP00000255082.3 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 67642555 |
| end | 67650730 |
| strand | - |
| ver | v1.2 |
| region | chr11:67642555-67650730 |
| region5000 | chr11:67637555-67655730 |
| regionname0 | ACY3_chr11_67642555_67650730 |
| regionname5000 | ACY3_chr11_67637555_67655730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:67642555
|
T | A | 0.0152 | splice_region_variant | LOW | HG01255.hp2 HG02809.hp2 HG03225.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0007a0002c0002t0013 | a0001c0001t0006g0002a0001c0001t0006g0008a0001c0001t0006g0039others(2): Show | 6 | 396 | 0 | ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 8/8 | c.*169A>T | ||||||
|
chr11:67647021
|
C | T | 0.6742 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(78): Show | 267 | 396 | 0 | ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/8 | c.23G>A | p.Arg8Gln | 265/1371 | 23/960 | 8/319 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY3 | 0/1 | a0001 | 319 | 267 | 45 | 50 | 108 | 18 | 45 | subcellular location copy fasta | chr11 | 67637555 | 67655730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY3 | 0/1 | c0001 | 960 | 264 | 45 | 50 | 108 | 17 | 43 | copy fasta | chr11 | 67637555 | 67655730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY3 | 0/1 | a0001c0001 | 264 | 45 | 50 | 108 | 17 | 43 | 960 | copy fasta | chr11 | 67637555 | 67655730 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 67650583 | - | 1 | -0.1888 | -0.1767 | -0.0804 | 0.1084 | acceptor | a0001c0001 | HG01106.hp1 HG01361.hp1 HG01361.hp2 |
HG02055.hp2 | ACY3 | chr11 | 67637555 | 67655730 |
| 67647516 | - | 2 | -0.9306 | -0.9251 | -0.9188 | 0.0117 | acceptor | a0001c0001 | HG03654.hp1 | HG02132.hp1 HG03017.hp1 |
ACY3 | chr11 | 67637555 | 67655730 |
| 67647589 | - | 2 | 0.8919 | 0.8502 | 0.8455 | 0.0464 | donor | a0001c0001 | HG03942.hp2 | HG02027.hp1 | ACY3 | chr11 | 67637555 | 67655730 |
| 67646808 | - | 3 | -0.9982 | -0.9981 | -0.9979 | 0.0003 | acceptor | a0001c0001 | NA18974.hp2 NA18987.hp2 NA19059.hp1 |
HG03098.hp1 | ACY3 | chr11 | 67637555 | 67655730 |
| 67647063 | - | 3 | 0.2528 | 0.2474 | 0.2402 | 0.0126 | donor | a0001c0001 | HG03492.hp1 | HG02630.hp1 HG02896.hp2 HG02897.hp1 |
ACY3 | chr11 | 67637555 | 67655730 |
| 67645692 | - | 4 | -0.9874 | -0.9868 | -0.9842 | 0.0033 | acceptor | a0001c0001 | HG00140.hp2 | HG00741.hp2 | ACY3 | chr11 | 67637555 | 67655730 |
| 67645887 | - | 4 | 0.9844 | 0.9834 | 0.0001 | 0.9843 | donor | a0001c0001 | HG00140.hp2 | HG00741.hp2 | ACY3 | chr11 | 67637555 | 67655730 |
| 67645287 | - | 5 | -0.9612 | -0.9599 | -0.9578 | 0.0033 | acceptor | a0001c0001 | HG01928.hp2 | HG02056.hp2 HG03654.hp1 |
ACY3 | chr11 | 67637555 | 67655730 |
| 67645380 | - | 5 | 0.9676 | 0.9653 | 0.9616 | 0.0060 | donor | a0001c0001 | HG02523.hp2 | HG00741.hp2 | ACY3 | chr11 | 67637555 | 67655730 |
| 67645045 | - | 6 | -0.9959 | -0.9956 | -0.9956 | 0.0004 | acceptor | a0001c0001 | HG01928.hp2 | HG02683.hp2 | ACY3 | chr11 | 67637555 | 67655730 |
| 67645152 | - | 6 | 0.9984 | 0.9983 | 0.9982 | 0.0002 | donor | a0001c0001 | HG00741.hp2 | NA19067.hp1 | ACY3 | chr11 | 67637555 | 67655730 |
| 67644760 | - | 7 | -0.9631 | -0.9505 | -0.9375 | 0.0256 | acceptor | a0001c0001 | HG02523.hp2 | NA18947.hp2 | ACY3 | chr11 | 67637555 | 67655730 |
| 67644869 | - | 7 | 0.9823 | 0.9822 | 0.9799 | 0.0023 | donor | a0001c0001 | NA21309.hp2 | HG01175.hp1 HG01952.hp1 HG02273.hp2 HG02293.hp2 |
ACY3 | chr11 | 67637555 | 67655730 |
| 67642939 | - | 8 | 0.9606 | 0.9329 | 0.9254 | 0.0351 | donor | a0001c0001 | NA20905.hp1 | HG00558.hp1 | ACY3 | chr11 | 67637555 | 67655730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 67639456:splice 67639456:variant goto | c.*3268G>A | 774627 | Benign | TBX10:347853 | SO:0001627 intron_variant |
.|MedGen:C3661900 | - | 2 | 2 | 2 | 4 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014a0002c0002t0001g0006 | HG02280.hp2 HG02486.hp2 HG02622.hp2 HG03225.hp2 HG06807.hp2 others(2): Show |
MODIFIER | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:67653870
|
c.-3382A>G | Serum metabolite levels0.27 | a0001a0002a0003 | a0001c0001a0002c0002a0002c0003a0002c0005a0003c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0002a0002c0003t0002a0002c0005t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0127a0001c0001t0001g0129a0002c0002t0001g0006a0002c0002t0001g0083others(19): Show | HG00423.hp1 HG00438.hp2 HG00639.hp1 HG01069.hp2 HG01192.hp2 others(46): Show |
Genetic determinants influencing human serum metab others(30): Show |
1,260 African American individuals/ | ACY3 | ACY3 - ALDH3B2 | rs12288023-C | - | MODIFIER | chr11 | T | C |
|
chr11:67641414
|
c.*1310G>A | Waist circumference adjusted for body mass indexothers(17): Show | a0001a0002 | a0001c0001a0001c0008a0002c0002a0002c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0008t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0033others(20): Show | HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00642.hp2 HG01106.hp2 others(42): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
219,872 British ancestry women/ | ACY3 | TBX10 - ACY3 | rs11607368-T | - | MODIFIER | chr11 | C | T |
|
chr11:67647357
|
c.-21+159A>G | Aspartoacylase-2 levels0.4292 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(96): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
2,549 European ancestry individuals/ | ACY3 | rs2514035-T | - | MODIFIER | chr11 | T | C | |
|
chr11:67647176
|
c.-20-113T>C | 6-bromotryptophan levels0.192515 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,214 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | N-acetylkynurenine (2) levels0.275588 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
6,193 European ancestry individuals/ | ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647176
|
c.-20-113T>C | N-acetyltyrosine levels0.29997 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
7,841 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647176
|
c.-20-113T>C | N-acetylphenylalanine levels0.261511 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,228 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647176
|
c.-20-113T>C |
N-acetyl-1-methylhistidine levels0.13938 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
7,588 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67645535
|
c.433-155A>G | Plasma 6-bromotryptophan levels in chronic kidney diseaseothers(22): Show | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,956 European ancestry individuals/ | ACY3 | rs2290958-C | - | MODIFIER | chr11 | T | C | |
|
chr11:67647176
|
c.-20-113T>C | Plasma N-acetyltyrosine levels in chronic kidney diseaseothers(21): Show | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,278 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647176
|
c.-20-113T>C | Urine N-acetyltyrosine levels in chronic kidney diseaseothers(20): Show | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,909 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647176
|
c.-20-113T>C | Plasma N-acetylphenylalanine levels in chronic kidney diseaseothers(26): Show | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,926 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647176
|
c.-20-113T>C | Urine N-acetylphenylalanine levels in chronic kidney diseaseothers(25): Show | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,910 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67647176
|
c.-20-113T>C | Plasma N-acetylkynurenine (2) levels in chronic kidney diseaseothers(27): Show | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,239 European ancestry individuals/ | ACY3 | rs7108760-G | - | MODIFIER | chr11 | A | G | |
|
chr11:67645535
|
c.433-155A>G | Serum metabolite levels0.404 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/1,509 European a others(19): Show |
ACY3 | ACY3 | rs2290958-T | - | MODIFIER | chr11 | T | C |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | Serum metabolite levels0.209 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/1,509 European a others(19): Show |
ACY3 | ACY3 | rs948445-C | - | MODERATE | chr11 | C | T |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | Serum metabolite levels0.295 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/1,509 European a others(19): Show |
ACY3 | ACY3 | rs948445-C | - | MODERATE | chr11 | C | T |
|
chr11:67645535
|
c.433-155A>G | Serum metabolite levels0.404 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ACY3 | ACY3 | rs2290958-T | - | MODIFIER | chr11 | T | C |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | Serum metabolite levels0.209 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ACY3 | ACY3 | rs948445-C | - | MODERATE | chr11 | C | T |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | Serum metabolite levels0.295 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ACY3 | ACY3 | rs948445-C | - | MODERATE | chr11 | C | T |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | Serum metabolite levels0.295 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ACY3 | ACY3 | rs948445-C | - | MODERATE | chr11 | C | T |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | 5-bromotryptophan levels0.162 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACY3 | rs948445-C | - | MODERATE | chr11 | C | T | |
|
chr11:67647583
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c.-88G>A | N-acetylphenylalanine levels0.306 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(92): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACY3 | rs2514036-C | - | MODIFIER | chr11 | C | T | |
|
chr11:67644359
|
c.744+401A>G | N-acetylphenylalanine levels0.263 | a0001a0002a0003a0004 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(123): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(347): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACY3 | rs2447587-T | - | MODIFIER | chr11 | T | C | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | N-acetyltyrosine levels0.43 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | N-acetyltryptophan levels0.5 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647174
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c.-20-111T>G | N-acetylphenylalanine levels0.43 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ACY3 | rs7108759-C | - | MODIFIER | chr11 | A | C | |
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chr11:67647174
|
c.-20-111T>G | Metabolite levels (N-acetylphenylalanine; N-acetyphenylalanine)others(28): Show | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
9,826 European, Hispanic or African American indiv others(125): Show |
ACY3 | rs7108759-C | - | MODIFIER | chr11 | A | C | |
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chr11:67647021
|
c.23G>Ap.Arg8Gln |
Metabolite levels (N-acetyltyrosine)0.25 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
7,690 European, Hispanic or African American indiv others(125): Show |
ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647174
|
c.-20-111T>G |
Metabolite levels (N-acetyltyrosine)0.25 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
7,690 European, Hispanic or African American indiv others(125): Show |
ACY3 | rs7108759-C | - | MODIFIER | chr11 | A | C | |
|
chr11:67645535
|
c.433-155A>G | Metabolite levels (N-acetylkynurenine (2))others(7): Show | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
4,548 European, Hispanic or African American indiv others(125): Show |
ACY3 | rs2290958-C | - | MODIFIER | chr11 | T | C | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln |
Metabolite levels (N-acetyltryptophan)0. others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
9,138 European, Hispanic or African American indiv others(125): Show |
ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | N-acetylkynurenine (2) levels0.28 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647174
|
c.-20-111T>G | 6-bromotryptophan levels0.24 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(82): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ACY3 | rs7108759-C | - | MODIFIER | chr11 | A | C | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln |
N-acetyl-1-methylhistidine levels0.12676 others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67647021
|
c.23G>Ap.Arg8Gln | N-acetylphenylalanine levels0.3014913 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ACY3 | rs948445-T | - | MODERATE | chr11 | C | T | |
|
chr11:67645535
|
c.433-155A>G | N-acetyltryptophan levels0.32831395 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ACY3 | rs2290958-T | - | MODIFIER | chr11 | T | C | |
|
chr11:67645535
|
c.433-155A>G | N-acetyltyrosine levels0.3046983 | a0001 | a0001c0001a0001c0006a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ACY3 | rs2290958-T | - | MODIFIER | chr11 | T | C | |
|
chr11:67647120
|
c.-20-57C>T | N-acetylkynurenine (2) levels0.26029605 | a0001a0002 | a0001c0001a0001c0006a0001c0007a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(89): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(283): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ACY3 | rs2509715-A | - | MODIFIER | chr11 | G | A | |
|
chr11:67641414
|
c.*1310G>A | Multi-trait sex score | a0001a0002 | a0001c0001a0001c0008a0002c0002a0002c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0008t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0033others(20): Show | HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00642.hp2 HG01106.hp2 others(42): Show |
The genetics of a "femaleness/maleness" score in c others(40): Show |
161,906 European ancestry females/ | TBX10 - ACY3 | rs11607368-? | - | MODIFIER | chr11 | C | T |