| geneid | 2180 |
|---|---|
| ensemblid | ENSG00000151726.16 |
| hgncid | 3569 |
| symbol | ACSL1 |
| name | acyl-CoA synthetase long chain family member 1 |
| refseq_nuc | NM_001995.5 |
| refseq_prot | NP_001986.2 |
| ensembl_nuc | ENST00000281455.7 |
| ensembl_prot | ENSP00000281455.2 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 184755595 |
| end | 184825968 |
| strand | - |
| ver | v1.2 |
| region | chr4:184755595-184825968 |
| region5000 | chr4:184750595-184830968 |
| regionname0 | ACSL1_chr4_184755595_184825968 |
| regionname5000 | ACSL1_chr4_184750595_184830968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSL1 | 1/1 | a0001 | 698 | 390 | 95 | 71 | 166 | 14 | 42 | subcellular location copy fasta | chr4 | 184750595 | 184830968 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 184825916 | - | 1 | -0.9208 | -0.9080 | -0.8630 | 0.0578 | acceptor | a0001 | HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp1 HG02451.hp2 others(2): Show |
HG02647.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184803320 | - | 2 | -0.9930 | -0.9900 | -0.9885 | 0.0045 | acceptor | a0001 | HG01361.hp2 HG01515.hp1 HG01517.hp2 |
HG02071.hp2 NA18962.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184803546 | - | 2 | 0.9983 | 0.9982 | 0.9980 | 0.0003 | donor | a0001 | HG01884.hp2 HG02559.hp1 HG02723.hp1 HG02818.hp2 HG02970.hp1 others(4): Show |
HG02165.hp2 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184788617 | - | 3 | -0.9947 | -0.9930 | -0.9913 | 0.0035 | acceptor | a0001 | HG00642.hp2 | HG02559.hp2 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184788731 | - | 3 | 0.9961 | 0.9953 | 0.9949 | 0.0012 | donor | a0001 | NA20805.hp2 | HG03831.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184783927 | - | 4 | -0.9875 | -0.9851 | -0.9825 | 0.0051 | acceptor | a0001 | HG04204.hp1 | HG01070.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184783991 | - | 4 | 0.9867 | 0.9825 | 0.9792 | 0.0075 | donor | a0001 | HG03195.hp1 | HG02027.hp2 HG03942.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184780332 | - | 5 | -0.9984 | -0.9981 | -0.9967 | 0.0017 | acceptor | a0001 | HG02109.hp2 HG02622.hp2 NA19240.hp1 |
HG01070.hp1 HG01071.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184780433 | - | 5 | 0.9969 | 0.9951 | 0.9848 | 0.0121 | donor | a0001 | HG02109.hp2 HG02622.hp2 NA19240.hp1 |
HG02083.hp2 NA18939.hp2 NA18950.hp2 NA19054.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184776884 | - | 6 | -0.9954 | -0.9949 | -0.9943 | 0.0012 | acceptor | a0001 | NA18954.hp2 NA18993.hp1 |
HG01257.hp1 HG01258.hp2 HG02683.hp2 HG03710.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184776983 | - | 6 | 0.9890 | 0.9828 | 0.9810 | 0.0080 | donor | a0001 | NA18954.hp2 NA18993.hp1 |
HG01516.hp1 HG01517.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184776484 | - | 7 | -0.9946 | -0.9925 | -0.9923 | 0.0023 | acceptor | a0001 | HG00741.hp1 HG02027.hp2 NA18971.hp1 NA19009.hp2 |
HG00609.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp1 NA18952.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184776662 | - | 7 | 0.9953 | 0.9951 | 0.9948 | 0.0006 | donor | a0001 | HG00741.hp1 HG02027.hp2 NA18971.hp1 NA19009.hp2 |
HG01167.hp2 HG01169.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184773843 | - | 8 | -0.9883 | -0.9867 | -0.9839 | 0.0044 | acceptor | a0001 | HG01255.hp2 | HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02897.hp2 HG02965.hp2 others(6): Show |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184773875 | - | 8 | 0.9801 | 0.9791 | 0.9746 | 0.0055 | donor | a0001 | HG01255.hp2 | HG06807.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184773663 | - | 9 | -0.9896 | -0.9869 | -0.9861 | 0.0034 | acceptor | a0001 | NA20905.hp1 | HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01106.hp2 others(21): Show |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184773714 | - | 9 | 0.9964 | 0.9957 | 0.9955 | 0.0010 | donor | a0001 | HG06807.hp1 | HG02027.hp1 HG02071.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184773081 | - | 10 | -0.9691 | -0.9649 | -0.9600 | 0.0091 | acceptor | a0001 | HG02145.hp2 HG02622.hp1 |
HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 others(17): Show |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184773154 | - | 10 | 0.9364 | 0.9071 | 0.8817 | 0.0546 | donor | a0001 | HG01884.hp2 HG02723.hp1 HG02818.hp2 HG03130.hp1 |
HG06807.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184770399 | - | 11 | -0.6430 | -0.5968 | -0.5675 | 0.0755 | acceptor | a0001 | HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02897.hp2 HG02965.hp2 others(6): Show |
NA18943.hp1 NA18964.hp2 NA18978.hp2 NA18985.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184770476 | - | 11 | 0.7961 | 0.7463 | 0.7272 | 0.0689 | donor | a0001 | HG02723.hp2 homoSapiens_grch38.hp1 |
HG01884.hp2 HG02723.hp1 HG02818.hp2 HG03130.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184768316 | - | 12 | -0.9950 | -0.9937 | -0.9926 | 0.0024 | acceptor | a0001 | HG01884.hp1 HG02145.hp1 HG02300.hp1 HG03486.hp1 |
HG00639.hp2 HG00733.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184768450 | - | 12 | 0.9980 | 0.9970 | 0.9967 | 0.0012 | donor | a0001 | HG03139.hp1 HG03579.hp2 |
HG00639.hp2 HG00733.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184766622 | - | 13 | -0.9980 | -0.9959 | -0.9956 | 0.0024 | acceptor | a0001 | HG02970.hp1 NA18906.hp2 |
HG02615.hp2 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184766756 | - | 13 | 0.9985 | 0.9982 | 0.9980 | 0.0005 | donor | a0001 | NA18974.hp1 NA18977.hp2 |
HG03139.hp1 HG03579.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184765891 | - | 14 | -0.9629 | -0.9564 | -0.8791 | 0.0838 | acceptor | a0001 | HG01516.hp1 HG01517.hp1 |
HG00609.hp2 HG02040.hp1 HG02083.hp1 NA19009.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184765986 | - | 14 | 0.9541 | 0.9468 | 0.8761 | 0.0780 | donor | a0001 | HG01516.hp1 HG01517.hp1 |
HG01123.hp1 HG01261.hp2 HG01928.hp2 HG01975.hp1 HG01993.hp1 others(3): Show |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184764853 | - | 15 | -0.9928 | -0.9838 | -0.9690 | 0.0238 | acceptor | a0001 | HG01168.hp2 HG03209.hp1 HG03471.hp1 |
HG00639.hp1 HG00738.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184764925 | - | 15 | 0.9788 | 0.9434 | 0.8718 | 0.1070 | donor | a0001 | HG04228.hp1 | HG00639.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184763167 | - | 16 | -0.9990 | -0.9988 | -0.9988 | 0.0003 | acceptor | a0001 | HG01081.hp2 | HG00735.hp1 HG01106.hp2 HG02273.hp1 HG02735.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184763255 | - | 16 | 0.9990 | 0.9988 | 0.9988 | 0.0003 | donor | a0001 | HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
HG02280.hp1 HG02630.hp2 HG02809.hp2 HG03139.hp2 NA18906.hp1 others(1): Show |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184762407 | - | 17 | -0.9954 | -0.9952 | -0.9942 | 0.0012 | acceptor | a0001 | HG02723.hp1 | HG02451.hp1 NA19030.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184762523 | - | 17 | 0.9983 | 0.9979 | 0.9977 | 0.0006 | donor | a0001 | HG01358.hp2 HG01516.hp1 HG01517.hp1 HG03139.hp1 HG03579.hp2 |
HG01081.hp2 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184760357 | - | 18 | -0.9995 | -0.9994 | -0.9993 | 0.0001 | acceptor | a0001 | HG00639.hp2 HG00733.hp1 HG02723.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
HG03195.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184760500 | - | 18 | 0.9976 | 0.9970 | 0.9967 | 0.0009 | donor | a0001 | HG00639.hp2 HG00733.hp1 |
NA18965.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184757819 | - | 19 | -0.9733 | -0.9492 | -0.9439 | 0.0294 | acceptor | a0001 | HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 others(7): Show |
HG02723.hp2 homoSapiens_grch38.hp1 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184757920 | - | 19 | 0.9148 | 0.8636 | 0.8519 | 0.0629 | donor | a0001 | HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 others(7): Show |
NA18949.hp2 | ACSL1 | chr4 | 184750595 | 184830968 |
| 184757635 | - | 20 | -0.9951 | -0.9945 | -0.9933 | 0.0018 | acceptor | a0001 | HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 others(7): Show |
NA18973.hp2 NA18979.hp1 NA19005.hp1 NA19056.hp1 NA19076.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184757706 | - | 20 | 0.9984 | 0.9983 | 0.9977 | 0.0007 | donor | a0001 | NA19078.hp1 | NA18973.hp2 NA18979.hp1 NA19005.hp1 NA19056.hp1 NA19076.hp2 |
ACSL1 | chr4 | 184750595 | 184830968 |
| 184757265 | - | 21 | 0.8089 | 0.7901 | 0.7787 | 0.0301 | donor | a0001 | HG03516.hp1 | NA18979.hp1 | ACSL1 | chr4 | 184750595 | 184830968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 184757686:splice 184757686:variant goto | c.1905C>Tp.Leu635Leu | 717920 | Benign | ACSL1:2180 | SO:0001619 non-coding_transcript_variant,SO:0001819 synonymous_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 5 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0033a0001c0006t0002g0086a0001c0006t0002g0205a0001c0006t0002g0253a0001c0006t0002g0298 | NA18973.hp2 NA18979.hp1 NA19005.hp1 NA19056.hp1 NA19076.hp2 |
LOW | chr4 | G | A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:184796605
|
c.195+6715A>G | Type 2 diabetes1.07 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Fine-mapping type 2 diabetes loci to single-varian others(77): Show |
74,124 European ancestry cases, 824,006 European a others(17): Show |
ACSL1 | ACSL1 | rs58730668-T | - | MODIFIER | chr4 | T | C |
|
chr4:184824934
|
c.-33+982C>A | Age at menopause | a0001a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0008a0001c0001t0010others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0019others(207): Show | HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 others(218): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 143,000 European ancestry individual others(2): Show |
ACSL1 | rs12503643-? | - | MODIFIER | chr4 | G | T | |
|
chr4:184793802
|
c.196-5071G>A |
Neuroblastoma or malignant cutaneous melanoma others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0014others(142): Show | HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 others(151): Show |
Neural crest-derived tumor neuroblastoma and melan others(99): Show |
2,101 European ancestry neuroblastoma cases, 12,87 others(225): Show |
ACSL1 | ACSL1 | rs7660927-C | - | MODIFIER | chr4 | C | T |
|
chr4:184755529
|
c.*1596G>A | Fulminant type 1 diabetes1.91 | a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0011a0001c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0019others(51): Show | HG00544.hp2 HG00597.hp1 HG00673.hp1 HG01243.hp2 HG01255.hp1 others(56): Show |
A genome-Wide Association Study Confirming a Stron others(144): Show |
257 Japanese ancestry cases, 419 Japanese ancestry others(10): Show |
ACSL1 | CENPU - ACSL1 | rs12644905-C | - | MODIFIER | chr4 | C | T |
|
chr4:184795078
|
c.196-6347A>G | Type 2 diabetes0.0711 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Genome-wide association analyses identify 143 risk others(65): Show |
61,714 European ancestry cases, 1,178 Pakistani an others(84): Show |
ACSL1 | ACSL1 | rs735949-C | - | MODIFIER | chr4 | T | C |
|
chr4:184781536
|
c.376-1103T>G | DNA methylation variation (age effect) | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | HG01074.hp2 |
Genotype effects contribute to variation in longit others(42): Show |
Up to 954 individuals/ | NR | ACSL1 | rs191540449-? | - | MODIFIER | chr4 | A | C |
|
chr4:184827652
|
c.-1769T>C | Menopause (age at onset)0.16 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0008a0001c0001t0010others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(206): Show | HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 others(219): Show |
Large-scale genomic analyses link reproductive agi others(89): Show |
up to 69,626 European ancestry women/ | ASCL1, MLF1IP | ACSL1 - MIR3945HG | rs6856693-A | - | MODIFIER | chr4 | A | G |
|
chr4:184787653
|
c.310+964A>G | Type 2 diabetes1.09 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0042a0001c0001t0002g0036a0001c0001t0002g0071a0001c0001t0002g0085a0001c0001t0002g0101others(33): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(33): Show |
An Expanded Genome-Wide Association Study of Type others(24): Show |
up to 26,676 European ancestry cases, up to 132,53 others(94): Show |
ACSL1 | ACSL1 | rs60780116-T | - | MODIFIER | chr4 | T | C |
|
chr4:184805394
|
c.-32-1848G>A | Fasting glucose0.0123 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0009a0001c0001t0011others(11): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(158): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 others(162): Show |
The trans-ancestral genomic architecture of glycem others(10): Show |
200,622 European ancestry individuals/ | ACSL1 | ACSL1 | rs4862423-T | - | MODIFIER | chr4 | C | T |
|
chr4:184824934
|
c.-33+982C>A | Years ovulating0.283 | a0001a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0008a0001c0001t0010others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0019others(207): Show | HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 others(218): Show |
Mendelian randomization analysis of factors relate others(69): Show |
118,227 European ancestry individuals/ | ACSL1 | rs12503643-T | - | MODIFIER | chr4 | G | T | |
|
chr4:184804262
|
c.-32-716T>C | Height0.0044 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(199): Show | HG00280.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 others(212): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ACSL1 | rs6552828-A | - | MODIFIER | chr4 | A | G | |
|
chr4:184794936
|
c.196-6205C>T | Glucose levels0.0354569 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
114,870 European ancestry individuals/ | ACSL1 | rs55881843-G | - | MODIFIER | chr4 | G | A | |
|
chr4:184794531
|
c.196-5800A>G | Type 2 diabetes0.0926 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Rare variant analyses in 51,256 type 2 diabetes ca others(87): Show |
51,256 African, African American, East Asian, Sout others(522): Show |
ACSL1 | rs116401167-C | - | MODIFIER | chr4 | T | C | |
|
chr4:184793135
|
c.196-4404C>A | Type 2 diabetes0.069 | a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0003t0003others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0229others(37): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(37): Show |
Multi-ancestry genetic study of type 2 diabetes hi others(72): Show |
251,740 European ancestry individuals/ | ACSL1 | rs1996546-G | - | MODIFIER | chr4 | G | T | |
|
chr4:184793135
|
c.196-4404C>A | Type 2 diabetes1.06 | a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0003t0003others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0229others(37): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(37): Show |
Multi-ancestry genetic study of type 2 diabetes hi others(72): Show |
251,740 European ancestry individuals, 139,705 Eas others(169): Show |
ACSL1 | rs1996546-G | - | MODIFIER | chr4 | G | T | |
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chr4:184792454
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c.196-3723C>T | Type 2 diabetes0.0611 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Discovery of 318 new risk loci for type 2 diabetes others(96): Show |
148,726 European ancestry cases, 965,732 European others(18): Show |
NR | ACSL1 | rs72695645-G | - | MODIFIER | chr4 | G | A |
|
chr4:184794946
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c.196-6215C>T | Type 2 diabetes0.0561 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Discovery of 318 new risk loci for type 2 diabetes others(96): Show |
148,726 European ancestry cases, 24,646 African Am others(193): Show |
NR | ACSL1 | rs55691245-G | - | MODIFIER | chr4 | G | A |
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chr4:184794747
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c.196-6016T>C | Random glucose levels0.003458812 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
GWAS of random glucose in 476,326 individuals prov others(87): Show |
7,644 African ancestry individuals, 1,503 Chinese others(106): Show |
ACSL1 | rs72695652-A | - | MODIFIER | chr4 | A | G | |
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chr4:184794747
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c.196-6016T>C | Random glucose levels0.0035 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
GWAS of random glucose in 476,326 individuals prov others(87): Show |
458,862 European ancestry individuals/ | ACSL1 | rs72695652-A | - | MODIFIER | chr4 | A | G | |
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chr4:184778764
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c.477+1568A>G |
Gut microbial network clusters (Salmon (at 1 year) x Any Breastfeeding (3 Months) interaction others(57): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0344a0001c0001t0004g0346a0001c0001t0004g0347a0001c0001t0004g0360a0001c0001t0004g0361others(6): Show | HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ACSL1 | rs72695640-C | - | MODIFIER | chr4 | T | C | |
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chr4:184784999
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c.311-1008G>A | Type 2 diabetes | a0001a0003 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002a0001c0002t0004a0001c0002t0007others(6): Show | a0001c0001t0001g0114a0001c0001t0001g0136a0001c0001t0001g0139a0001c0001t0001g0216a0001c0001t0001g0219others(91): Show | HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 others(94): Show |
Genetic drivers of heterogeneity in type 2 diabete others(18): Show |
50,251 African American cases, 103,909 African Ame others(353): Show |
ACSL1 | rs7683525-T | - | MODIFIER | chr4 | C | T | |
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chr4:184792454
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c.196-3723C>T | Type 2 diabetes | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Genetic drivers of heterogeneity in type 2 diabete others(18): Show |
50,251 African American cases, 103,909 African Ame others(353): Show |
ACSL1 | rs72695645-G | - | MODIFIER | chr4 | G | A | |
|
chr4:184783022
|
c.375+905C>A | Substantia nigra iron levels (quantitative susceptibility mapping)others(35): Show | a0001a0002 | a0001c0001a0001c0003a0001c0004a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0014others(200): Show | HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 others(212): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs2046814-G | - | MODIFIER | chr4 | G | T | |
|
chr4:184780466
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c.376-33A>G | Putamen iron levels (R2* MRI)0.046002 | a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0003t0013a0001c0005t0001a0001c0005t0002a0001c0005t0003 | a0001c0003t0003g0003a0001c0003t0003g0008a0001c0003t0003g0022a0001c0003t0003g0025a0001c0003t0003g0041others(38): Show | HG00280.hp1 HG00544.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp1 others(40): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs7680850-T | - | MODIFIER | chr4 | T | C | |
|
chr4:184791173
|
c.196-2442A>G |
Substantia nigra iron levels (R2* MRI)0. others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0002t0002a0001c0003t0003a0001c0005t0001others(2): Show | a0001c0001t0002g0160a0001c0001t0002g0373a0001c0001t0002g0374a0001c0001t0004g0346a0001c0001t0004g0347others(39): Show | HG00280.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 others(41): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs13137179-T | - | MODIFIER | chr4 | T | C | |
|
chr4:184759412
|
c.1782+945C>T | Putamen iron levels (quantitative susceptibility mapping)others(26): Show | a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0003a0001c0003t0013others(1): Show | a0001c0001t0001g0354a0001c0001t0002g0011a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0157others(46): Show | HG00280.hp1 HG00544.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp1 others(49): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs13137387-G | - | MODIFIER | chr4 | G | A | |
|
chr4:184810786
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c.-32-7240C>A | Pallidum iron levels (R2* MRI)0.0491149 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0114a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0168others(69): Show | HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 others(73): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs13126272-G | - | MODIFIER | chr4 | G | T | |
|
chr4:184783022
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c.375+905C>A | Caudate iron levels (R2* MRI)0.041229 | a0001a0002 | a0001c0001a0001c0003a0001c0004a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0014others(200): Show | HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 others(212): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs2046814-G | - | MODIFIER | chr4 | G | T | |
|
chr4:184813900
|
c.-32-10354C>T | Pallidum iron levels (quantitative susceptibility mapping)others(27): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0110a0001c0001t0001g0124others(128): Show | HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 others(134): Show |
MRI-derived brain iron, grey matter volume, and ri others(100): Show |
39,533 European ancestry individuals/ | ACSL1 | rs7676928-G | - | MODIFIER | chr4 | G | A | |
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chr4:184794531
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c.196-5800A>G | Glucose levels0.0312 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
A cross-population atlas of genetic associations f others(24): Show |
314,916 European ancestry individuals, 133,336 Eas others(29): Show |
ACSL1 | rs116401167-C | - | MODIFIER | chr4 | T | C | |
|
chr4:184793802
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c.196-5071G>A | Diabetes / "Sugar"0.0529 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0014others(142): Show | HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 others(151): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
16,718 African American or Afro-Caribbean cases, 3 others(271): Show |
ACSL1 | rs7660927-C | - | MODIFIER | chr4 | C | T | |
|
chr4:184794531
|
c.196-5800A>G | Diabetes mellitus (PheCode 250)0.05623 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
154,958 European ancestry cases, 276,347 European others(18): Show |
ACSL1 | rs116401167-T | - | MODIFIER | chr4 | T | C | |
|
chr4:184794531
|
c.196-5800A>G | Glucose (fasting status unknown, maximum, inv-norm transformed)others(30): Show | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
117,850 African American or Afro-Caribbean individ others(130): Show |
ACSL1 | rs116401167-T | - | MODIFIER | chr4 | T | C | |
|
chr4:184795783
|
c.196-7052A>G | Glucose (fasting status unknown, minimum, inv-norm transformed)others(30): Show | a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003a0001c0004t0001 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(18): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(18): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
118,147 African American or Afro-Caribbean individ others(130): Show |
ACSL1 | rs72695658-T | - | MODIFIER | chr4 | T | C | |
|
chr4:184795783
|
c.196-7052A>G | Glucose (fasting status unknown, mean, inv-norm transformed)others(27): Show | a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003a0001c0004t0001 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(18): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(18): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
118,233 African American or Afro-Caribbean individ others(130): Show |
ACSL1 | rs72695658-T | - | MODIFIER | chr4 | T | C | |
|
chr4:184794531
|
c.196-5800A>G | Glucose (fasting status unknown, maximum, inv-norm transformed)others(30): Show | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0042a0001c0001t0003g0352a0001c0001t0004g0044a0001c0001t0004g0140a0001c0001t0004g0141others(17): Show | HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 others(17): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
419,671 European ancestry individuals/ | ACSL1 | rs116401167-T | - | MODIFIER | chr4 | T | C |