| geneid | 87 |
|---|---|
| ensemblid | ENSG00000072110.16 |
| hgncid | 163 |
| symbol | ACTN1 |
| name | actinin alpha 1 |
| refseq_nuc | NM_001130004.2 |
| refseq_prot | NP_001123476.1 |
| ensembl_nuc | ENST00000394419.9 |
| ensembl_prot | ENSP00000377941.4 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 68874128 |
| end | 68979302 |
| strand | - |
| ver | v1.2 |
| region | chr14:68874128-68979302 |
| region5000 | chr14:68869128-68984302 |
| regionname0 | ACTN1_chr14_68874128_68979302 |
| regionname5000 | ACTN1_chr14_68869128_68984302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN1 | 1/1 | a0001 | 914 | 276 | 92 | 57 | 78 | 13 | 34 | subcellular location copy fasta | chr14 | 68869128 | 68984302 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 68978952 | - | 1 | -0.9638 | -0.9543 | -0.9343 | 0.0295 | acceptor | a0001 | NA18986.hp2 | HG00140.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68925558 | - | 2 | -0.9982 | -0.9977 | -0.9974 | 0.0008 | acceptor | a0001 | HG02622.hp1 NA18949.hp2 |
HG02647.hp2 HG02717.hp2 HG02896.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68925672 | - | 2 | 0.9974 | 0.9971 | 0.9967 | 0.0007 | donor | a0001 | NA19030.hp2 | HG01433.hp2 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68921006 | - | 3 | -0.9995 | -0.9995 | -0.9994 | 0.0001 | acceptor | a0001 | NA18989.hp1 NA19083.hp2 |
HG00280.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG02886.hp1 others(6): Show |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68921125 | - | 3 | 0.9988 | 0.9988 | 0.9988 | 0.0001 | donor | a0001 | HG00280.hp2 HG01081.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 others(9): Show |
HG03491.hp2 HG03492.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68912156 | - | 4 | -0.9996 | -0.9996 | -0.9995 | 0.0001 | acceptor | a0001 | HG02258.hp2 | HG03195.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68912242 | - | 4 | 0.9991 | 0.9990 | 0.9990 | 0.0001 | donor | a0001 | HG02280.hp1 | HG03195.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68909955 | - | 5 | -0.9957 | -0.9946 | -0.9931 | 0.0026 | acceptor | a0001 | HG03195.hp1 | HG01175.hp1 HG03942.hp1 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68910042 | - | 5 | 0.9911 | 0.9894 | 0.9883 | 0.0027 | donor | a0001 | NA19240.hp2 | HG00735.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68909318 | - | 6 | -0.9986 | -0.9983 | -0.9981 | 0.0005 | acceptor | a0001 | NA18993.hp2 | HG03225.hp2 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68909396 | - | 6 | 0.9968 | 0.9951 | 0.9943 | 0.0026 | donor | a0001 | HG02630.hp2 HG03471.hp1 |
NA20129.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68904655 | - | 7 | -0.9954 | -0.9949 | -0.9943 | 0.0011 | acceptor | a0001 | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 others(40): Show |
HG02055.hp2 HG02572.hp2 HG02809.hp1 HG02809.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68904736 | - | 7 | 0.9989 | 0.9987 | 0.9986 | 0.0002 | donor | a0001 | NA19009.hp2 | NA19083.hp2 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68902477 | - | 8 | -0.9685 | -0.9643 | -0.9362 | 0.0323 | acceptor | a0001 | HG02602.hp1 HG02683.hp2 HG03225.hp2 |
HG02004.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68902562 | - | 8 | 0.9946 | 0.9943 | 0.9936 | 0.0010 | donor | a0001 | HG00558.hp2 HG01074.hp2 HG01175.hp2 HG01978.hp1 HG02257.hp1 others(6): Show |
HG02027.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 NA18940.hp2 others(5): Show |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68893655 | - | 9 | -0.9952 | -0.9909 | -0.9889 | 0.0063 | acceptor | a0001 | HG02630.hp2 NA19240.hp2 |
HG03017.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68893747 | - | 9 | 0.9977 | 0.9975 | 0.9972 | 0.0005 | donor | a0001 | HG02559.hp2 | HG02630.hp2 NA19240.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68892053 | - | 10 | -0.9986 | -0.9983 | -0.9981 | 0.0005 | acceptor | a0001 | HG03195.hp1 | HG00738.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68892283 | - | 10 | 0.9985 | 0.9985 | 0.9983 | 0.0002 | donor | a0001 | HG01981.hp1 | HG02630.hp2 NA19240.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68890139 | - | 11 | -0.9983 | -0.9980 | -0.9970 | 0.0012 | acceptor | a0001 | NA18948.hp2 NA18979.hp1 NA19066.hp1 NA19066.hp2 |
HG02572.hp1 HG02647.hp1 HG03579.hp1 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68890286 | - | 11 | 0.9987 | 0.9986 | 0.9984 | 0.0003 | donor | a0001 | HG02818.hp1 HG03195.hp1 |
HG04115.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68885425 | - | 12 | -0.9989 | -0.9988 | -0.9987 | 0.0002 | acceptor | a0001 | HG02486.hp2 | HG02257.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68885575 | - | 12 | 0.9983 | 0.9982 | 0.9981 | 0.0002 | donor | a0001 | HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp2 |
HG00639.hp2 HG00735.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68884775 | - | 13 | -0.9966 | -0.9965 | -0.9956 | 0.0010 | acceptor | a0001 | HG01167.hp1 HG01243.hp2 HG02559.hp2 |
HG01081.hp1 HG02145.hp2 HG03516.hp2 NA19240.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68884883 | - | 13 | 0.9985 | 0.9984 | 0.9979 | 0.0006 | donor | a0001 | HG01243.hp2 HG02559.hp2 |
HG01081.hp1 HG02145.hp2 HG03516.hp2 NA19240.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68884168 | - | 14 | -0.9992 | -0.9992 | -0.9991 | 0.0001 | acceptor | a0001 | HG02109.hp2 HG02451.hp1 HG02965.hp2 HG06807.hp1 NA18906.hp1 |
HG02572.hp1 HG02647.hp1 HG03579.hp1 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68884308 | - | 14 | 0.9992 | 0.9992 | 0.9991 | 0.0001 | donor | a0001 | HG01074.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 others(9): Show |
HG01978.hp2 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68882873 | - | 15 | -0.9702 | -0.9670 | -0.9654 | 0.0049 | acceptor | a0001 | HG03579.hp2 | NA18980.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68883055 | - | 15 | 0.9865 | 0.9818 | 0.9781 | 0.0084 | donor | a0001 | HG02922.hp1 HG03195.hp1 |
HG02970.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68882458 | - | 16 | -0.9986 | -0.9982 | -0.9979 | 0.0007 | acceptor | a0001 | NA18948.hp2 | HG02630.hp2 NA18954.hp1 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68882592 | - | 16 | 0.9985 | 0.9984 | 0.9983 | 0.0002 | donor | a0001 | HG03041.hp1 | HG02486.hp2 HG02895.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp1 others(1): Show |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68880810 | - | 17 | -0.9995 | -0.9994 | -0.9993 | 0.0001 | acceptor | a0001 | HG03490.hp1 HG03492.hp1 |
HG01167.hp1 NA18942.hp1 NA18948.hp2 NA18969.hp2 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68880989 | - | 17 | 0.9966 | 0.9963 | 0.9953 | 0.0013 | donor | a0001 | HG02602.hp1 | HG01069.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68879962 | - | 18 | -0.9984 | -0.9979 | -0.9976 | 0.0008 | acceptor | a0001 | NA20752.hp1 | HG02602.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68880108 | - | 18 | 0.9961 | 0.9958 | 0.9944 | 0.0017 | donor | a0001 | HG02897.hp2 | HG01934.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68878989 | - | 19 | -0.9776 | -0.9748 | -0.9714 | 0.0061 | acceptor | a0001 | HG00140.hp2 | HG03453.hp2 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68879069 | - | 19 | 0.3771 | 0.3682 | 0.3543 | 0.0228 | donor | a0001 | NA20752.hp1 | HG02698.hp2 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68878458 | - | 20 | -0.9456 | -0.9444 | -0.9420 | 0.0036 | acceptor | a0001 | HG03130.hp2 | HG02109.hp2 HG02451.hp1 NA18906.hp1 |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68878523 | - | 20 | 0.8801 | 0.8779 | 0.8753 | 0.0048 | donor | a0001 | HG02257.hp1 NA19030.hp2 |
HG00733.hp1 HG01106.hp1 HG02258.hp2 HG02970.hp2 HG03130.hp1 others(4): Show |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68877082 | - | 21 | -0.9990 | -0.9990 | -0.9989 | 0.0001 | acceptor | a0001 | HG03017.hp2 | HG00099.hp2 HG00280.hp2 HG00639.hp2 HG01169.hp2 HG01255.hp1 others(23): Show |
ACTN1 | chr14 | 68869128 | 68984302 |
| 68877240 | - | 21 | 0.9980 | 0.9979 | 0.9978 | 0.0002 | donor | a0001 | HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00741.hp1 others(22): Show |
HG03471.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 68875017 | - | 22 | 0.8721 | 0.8536 | 0.8367 | 0.0355 | donor | a0001 | HG02109.hp2 HG02451.hp1 NA18906.hp1 |
HG03927.hp1 | ACTN1 | chr14 | 68869128 | 68984302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:68893914
|
c.763-167A>G | Periodontitis (Mean PAL)0.07 | a0001a0002a0004a0006 | a0001c0001a0001c0002a0001c0003a0001c0017a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0167a0001c0001t0001g0170a0001c0001t0001g0182others(80): Show | HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00639.hp2 HG00735.hp2 others(80): Show |
Genome-wide association study of chronic periodont others(36): Show |
up to 4,032 European ancestry individuals/ | ACTN1 | ACTN1 | rs12050161-T | - | MODIFIER | chr14 | T | C |
|
chr14:68941980
|
c.106-16308C>T | Smoking behavior1.52 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0002t0002others(11): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0147others(189): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 others(190): Show |
Genome-wide and candidate gene association study o others(30): Show |
2,617 European ancestry smokers, 1,725 European an others(16): Show |
ACTN1 | ACTN1 | rs2268983-? | - | MODIFIER | chr14 | G | A |
|
chr14:68929672
|
c.106-4000A>G | Platelet count0.03059 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0010a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0138a0001c0001t0001g0152a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(77): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 others(78): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
108,208 Japanese ancestry individuals/ | ACTN1 | ACTN1 | rs3784138-? | - | MODIFIER | chr14 | T | C |
|
chr14:68959672
|
c.105+19280G>A | Cognitive decline rate in late mild cognitive impairmentothers(22): Show | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0087 | HG01346.hp2 HG03540.hp1 |
Variations in the FRA10AC1 Fragile Site and 15q21 others(56): Show |
472 European ancestry cases, 47 cases/ | ACTN1 | ACTN1 | rs76745467-C | - | MODIFIER | chr14 | C | T |
|
chr14:68959672
|
c.105+19280G>A | Cognitive decline rate in late mild cognitive impairmentothers(22): Show | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0087 | HG01346.hp2 HG03540.hp1 |
Variations in the FRA10AC1 Fragile Site and 15q21 others(56): Show |
472 European ancestry cases, 47 cases/ | ACTN1 | ACTN1 | rs76745467-C | - | MODIFIER | chr14 | C | T |
|
chr14:68957837
|
c.105+21115A>G | Response to SSRI (responders vs non-responders)others(13): Show | a0001 | a0001c0001a0001c0002a0001c0003a0001c0009a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0002t0003others(5): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0147a0001c0001t0001g0155others(68): Show | HG00140.hp1 HG00642.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp2 others(68): Show |
Genome-wide association studies of antidepressant others(50): Show |
13,130 European ancestry responders, 6,610 Europea others(26): Show |
NR | ACTN1 | rs2268972-T | - | MODIFIER | chr14 | T | C |
|
chr14:68898236
|
c.762+4241T>C |
Protein quantitative trait loci (liver)0 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0143a0001c0001t0001g0213a0001c0001t0001g0217a0001c0001t0002g0026a0001c0001t0002g0034others(5): Show | HG02004.hp1 HG03017.hp2 HG03490.hp2 HG03688.hp1 NA18942.hp1 others(5): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | ACTN1 | rs3784133-G | - | MODIFIER | chr14 | A | G |
|
chr14:68876689
|
c.2586+393G>C | Lack of perseverance0.263 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0219a0001c0001t0002g0118a0001c0001t0002g0119 | HG01069.hp2 HG01071.hp2 HG01981.hp1 |
Genome-wide association studies of impulsive perso others(147): Show |
22,861 European ancestry individuals/ | ACTN1 | ACTN1 | rs117585062-G | - | MODIFIER | chr14 | C | G |
|
chr14:68974289
|
c.105+4663T>C | Post-traumatic stress disorder (mental health questionnaire or predicted)others(44): Show | a0001a0002a0003a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002a0001c0002t0004a0001c0003t0007others(7): Show | a0001c0001t0001g0165a0001c0001t0001g0186a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0005others(121): Show | HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
Using phenotype risk scores to enhance gene discov others(71): Show |
497,803 European ancestry individuals/ | ACTN1 | rs2012820-A | - | MODIFIER | chr14 | A | G | |
|
chr14:68963653
|
c.105+15299C>T |
Medication use (drugs used in diabetes)0 others(9): Show |
a0001a0002a0003a0006 | a0001c0001a0001c0002a0001c0004a0001c0009a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0004t0004others(7): Show | a0001c0001t0001g0152a0001c0001t0001g0165a0001c0001t0001g0186a0001c0001t0001g0226a0001c0001t0001g0239others(114): Show | HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
Genome-wide association study of medication-use an others(39): Show |
15,272 European ancestry cases, 29,0641 European a others(17): Show |
ACTN1 | ACTN1 | rs2268967-A | - | MODIFIER | chr14 | G | A |
|
chr14:68958750
|
c.105+20202A>G | Platelet count0.3053 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Multi-ethnic genome-wide association analyses of w others(112): Show |
27,236 European ancestry individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | Mean platelet volume0.4687 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Multi-ethnic genome-wide association analyses of w others(112): Show |
21,347 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | Platelet count18.86567 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Genetic analyses of diverse populations improves d others(28): Show |
8,850 African American individuals, 18,949 Hispani others(112): Show |
NR | ACTN1 | rs117672662-? | - | MODIFIER | chr14 | T | C |
|
chr14:68959900
|
c.105+19052G>A | Educational attainment (MTAG)0.0084 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0002t0002others(22): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143others(260): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 others(262): Show |
Gene discovery and polygenic prediction from a gen others(80): Show |
1,311,438 European ancestry individuals/ | Intergenic | ACTN1 | rs4902681-T | - | MODIFIER | chr14 | C | T |
|
chr14:68886047
|
c.1235-472C>A | Mosquito bite size0.0727107 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0215a0001c0001t0002g0094 | HG00642.hp2 HG02486.hp1 HG02698.hp1 HG04115.hp2 HG04204.hp1 |
GWAS of self-reported mosquito bite size, itch int others(86): Show |
84,724 European ancestry individuals/ | ACTN1 | ACTN1 | rs17835769-T | - | MODIFIER | chr14 | G | T |
|
chr14:68958750
|
c.105+20202A>G | Platelet count0.604 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Genome-wide Association Study of Platelet Count Id others(61): Show |
12,491 Hispanic/Latin American individuals/7,170 H others(34): Show |
ACTN1 | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C |
|
chr14:68958750
|
c.105+20202A>G | Platelet distribution width0.3333976 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,433 European ancestry individuals/ | ACTN1 | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
|
chr14:68875533
|
c.2587-516G>A | Mean platelet volume0.03994193 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0002t0003a0001c0002t0004others(12): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0147a0001c0001t0001g0148others(150): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 others(151): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,454 European ancestry individuals/ | ACTN1 | ACTN1 | rs2073307-T | - | MODIFIER | chr14 | C | T |
|
chr14:68958750
|
c.105+20202A>G | Mean platelet volume0.4413049 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,454 European ancestry individuals/ | ACTN1 | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
|
chr14:68875533
|
c.2587-516G>A | Platelet count | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0002t0003a0001c0002t0004others(12): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0147a0001c0001t0001g0148others(150): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 others(151): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
235,256 European ancestry individuals/100,764 Euro others(25): Show |
ACTN1 | rs2073307-C | - | MODIFIER | chr14 | C | T | |
|
chr14:68940108
|
c.106-14436C>T | Mean platelet volume during second trimester of pregnancyothers(23): Show | a0001a0005 | a0001c0001a0001c0002a0001c0003a0001c0009a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0002t0002others(10): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0147others(164): Show | HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(166): Show |
Genetic Basis of Altered Platelet Counts and Gesta others(37): Show |
71,605 Chinese ancestry individuals/ | ACTN1 | rs10141794-G | - | MODIFIER | chr14 | G | A | |
|
chr14:68935665
|
c.106-9993G>T | Mean platelet volume during third trimester of pregnancyothers(22): Show | a0001 | a0001c0001a0001c0002a0001c0003a0001c0010a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0219a0001c0001t0001g0255others(63): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 others(64): Show |
Genetic Basis of Altered Platelet Counts and Gesta others(37): Show |
71,605 Chinese ancestry individuals/ | ACTN1 | rs2300879-C | - | MODIFIER | chr14 | C | A | |
|
chr14:68983788
|
c.-4732C>T | Medication use for hypertension (number of purchases)others(21): Show | a0001a0002a0003a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002a0001c0002t0003a0001c0002t0004others(11): Show | a0001c0001t0001g0143a0001c0001t0001g0148a0001c0001t0001g0151a0001c0001t0001g0155a0001c0001t0001g0159others(156): Show | HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(158): Show |
Genetic predictors of lifelong medication-use patt others(33): Show |
567,671 European ancestry individuals/ | ACTN1-DT | rs7140680-? | - | MODIFIER | chr14 | G | A | |
|
chr14:68958750
|
c.105+20202A>G | Platelet count20.988445 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Whole genome sequence analysis of platelet traits others(59): Show |
14,392 African American individuals, 13,985 Hispan others(261): Show |
ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | Mean platelet volume0.5063 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
2,810 Hispanic or Latin American individuals/ | NR | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C |
|
chr14:68958750
|
c.105+20202A>G | Platelet count0.317111 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
9,367 Hispanic or Latin American individuals/ | NR | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C |
|
chr14:68958750
|
c.105+20202A>G |
High fluorescence immature platelet fraction< others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
A genome-wide association study of blood cell morp others(68): Show |
36,829 European ancestry individuals/ | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C | |
|
chr14:68873117
|
c.*1742G>A | Platelet side fluorescence0.0531396 | a0001a0006 | a0001c0001a0001c0005a0001c0009a0001c0010a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0005t0001a0001c0005t0002others(7): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0155a0001c0001t0001g0164a0001c0001t0001g0165others(75): Show | HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 others(75): Show |
A genome-wide association study of blood cell morp others(68): Show |
29,678 European ancestry individuals/ | BLZF2P - ACTN1 | rs10129289-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68958750
|
c.105+20202A>G | Immature platelet fraction0.453747 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
A genome-wide association study of blood cell morp others(68): Show |
36,615 European ancestry individuals/ | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C | |
|
chr14:68974643
|
c.105+4309A>G | Restless legs syndrome0.09355903 | a0001a0004 | a0001c0001a0001c0002a0001c0003a0001c0013a0004c0008 | a0001c0001t0001a0001c0002t0003a0001c0003t0001a0001c0013t0001a0004c0008t0003 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(11): Show | HG00741.hp1 HG01106.hp2 HG01346.hp1 HG01516.hp2 HG01981.hp1 others(11): Show |
Genome-wide meta-analyses of restless legs syndrom others(80): Show |
78,333 European ancestry female cases, 844,872 Eur others(31): Show |
ACTN1 | rs730635-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68915973
|
c.341-3731G>A | Gut microbial network clusters (Salmon (at 1 year) x Household furry pet dog (1 Year) interactionothers(61): Show | a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0001g0226a0001c0001t0001g0239others(12): Show | HG00280.hp2 HG01081.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ACTN1 | rs114922884-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68898711
|
c.762+3766G>A |
Gut microbial network clusters (Pink (at 1 year) x Household furry pet dog (1 Year) interaction others(59): Show |
a0001a0002a0004a0006 | a0001c0001a0001c0002a0001c0003a0001c0017a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0002t0008others(5): Show | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0195a0001c0001t0001g0207a0001c0001t0001g0216others(62): Show | HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00639.hp2 HG00735.hp2 others(62): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ACTN1 | rs72733518-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68898711
|
c.762+3766G>A | Gut microbial network clusters (Pink (at 1 year) x Household furry pet dog (3 Months) interactionothers(61): Show | a0001a0002a0004a0006 | a0001c0001a0001c0002a0001c0003a0001c0017a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0002t0008others(5): Show | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0195a0001c0001t0001g0207a0001c0001t0001g0216others(62): Show | HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00639.hp2 HG00735.hp2 others(62): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ACTN1 | rs72733518-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68915973
|
c.341-3731G>A |
Gut microbial network clusters (Salmon (at 1 year) x Household furry pet dog (3 Months) interaction< others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0001g0226a0001c0001t0001g0239others(12): Show | HG00280.hp2 HG01081.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ACTN1 | rs114922884-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68915973
|
c.341-3731G>A |
Gut microbial network clusters (Salmon (at 1 year) x Household furry pet cat or dog (3 Months) inter others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0001g0226a0001c0001t0001g0239others(12): Show | HG00280.hp2 HG01081.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ACTN1 | rs114922884-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68887192
|
c.1235-1617G>A | Platelet count | a0001a0002a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0001g0167a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0195a0001c0001t0001g0198others(100): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 others(100): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | ACTN1 | rs181472-? | - | MODIFIER | chr14 | C | T | |
|
chr14:68887943
|
c.1234+2196A>C | Drinks per week0.00498 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0012a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0143a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0167others(148): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 others(148): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
2,965,643 European ancestry, East Asian ancestry, others(57): Show |
ACTN1, HMGN1P3 | rs181476-G | - | MODIFIER | chr14 | T | G | |
|
chr14:68949267
|
c.106-23595T>C |
ISEI occupational score (MTAG)0.00915892 others(1): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0002t0008others(13): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0143a0001c0001t0001g0148a0001c0001t0001g0151others(178): Show | HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(180): Show |
Polygenic prediction of occupational status GWAS e others(114): Show |
271,769 British ancestry individuals/ | ACTN1 | rs36048264-? | - | MODIFIER | chr14 | A | G | |
|
chr14:68949267
|
c.106-23595T>C |
SIOPS occupational score (MTAG)0.0090614 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0002t0008others(13): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0143a0001c0001t0001g0148a0001c0001t0001g0151others(178): Show | HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(180): Show |
Polygenic prediction of occupational status GWAS e others(114): Show |
271,769 British ancestry individuals/ | ACTN1 | rs36048264-? | - | MODIFIER | chr14 | A | G | |
|
chr14:68949267
|
c.106-23595T>C |
CAMSIS occupational score (MTAG)0.010288 others(3): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0002t0008others(13): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0143a0001c0001t0001g0148a0001c0001t0001g0151others(178): Show | HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(180): Show |
Polygenic prediction of occupational status GWAS e others(114): Show |
273,157 British ancestry individuals/ | ACTN1 | rs36048264-? | - | MODIFIER | chr14 | A | G | |
|
chr14:68978668
|
c.105+284C>A | Migraine or type 2 diabetes1.03 | a0001a0002a0003a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004a0001c0003t0007a0001c0004t0004others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(120): Show | HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
Genetic Overlap Analysis Identifies a Shared Etiol others(55): Show |
74,124 European ancestry type 2 diabetes cases, 10 others(77): Show |
ACTN1 | rs4902684-T | - | MODIFIER | chr14 | G | T | |
|
chr14:68888154
|
c.1234+1985A>C | Educational attainment0.00733179 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0012a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0143a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0167others(145): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 others(145): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | ACTN1 | rs181478-T | - | MODIFIER | chr14 | T | G | |
|
chr14:68891377
|
c.1086+676T>C | Educational attainment0.00696371 | a0001a0002a0004a0006 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0001t0001g0139a0001c0001t0001g0148a0001c0001t0001g0151a0001c0001t0001g0159a0001c0001t0001g0160others(175): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 others(176): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | ACTN1 | rs181483-A | - | MODIFIER | chr14 | A | G | |
|
chr14:68941980
|
c.106-16308C>T | Educational attainment0.00593186 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0002t0002others(11): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0147others(189): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 others(190): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | ACTN1 | rs2268983-A | - | MODIFIER | chr14 | G | A | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, minimum, inv-norm transformed)others(24): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
97,007 African American or Afro-Caribbean individu others(129): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, mean, inv-norm transformed)others(21): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
97,007 African American or Afro-Caribbean individu others(129): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, maximum, inv-norm transformed)others(23): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
97,007 African American or Afro-Caribbean individu others(129): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68903246
|
c.677-684G>A | Platelet count0.0340732 | a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0003a0001c0011a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0002t0002others(13): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0147a0001c0001t0001g0151others(127): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00639.hp2 others(128): Show |
A cross-population atlas of genetic associations f others(24): Show |
148,623 East Asian ancestry individuals/ | ACTN1 | rs3784134-T | - | MODIFIER | chr14 | C | T | |
|
chr14:68958750
|
c.105+20202A>G | platelet count (mean, inv-norm transformed)others(8): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,759 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | platelet count (minimum, inv-norm transformed)others(12): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,776 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | platelet count (maximum, inv-norm transformed)others(12): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,712 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | Platelet count0.3857 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
A cross-population atlas of genetic associations f others(24): Show |
350,474 European ancestry individuals, 148,623 Eas others(29): Show |
ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, maximum, inv-norm transformed)others(23): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
97,007 African American or Afro-Caribbean individu others(4): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, mean, inv-norm transformed)others(20): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
97,007 African American or Afro-Caribbean individu others(4): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, minimum, inv-norm transformed)others(23): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
97,007 African American or Afro-Caribbean individu others(4): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, minimum, inv-norm transformed)others(23): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
40,412 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, maximum, inv-norm transformed)others(24): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
40,412 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | mean platelet volume (MPV, mean, inv-norm transformed)others(21): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
40,412 Hispanic or Latin American individuals/ | ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68970424
|
c.105+8528C>T |
Medication use (drugs used in diabetes)0 others(5): Show |
a0001a0002a0003a0006 | a0001c0001a0001c0002a0001c0004a0001c0010a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004a0001c0004t0004a0001c0010t0002others(4): Show | a0001c0001t0001g0165a0001c0001t0001g0186a0001c0001t0001g0240a0001c0001t0002g0001a0001c0001t0002g0002others(107): Show | HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(109): Show |
A cross-population atlas of genetic associations f others(24): Show |
15,272 European ancestry cases, 290,641 European a others(89): Show |
ACTN1 | rs35399713-A | - | MODIFIER | chr14 | G | A | |
|
chr14:68979287
|
c.-231T>A |
High light scatter reticulocyte count0.1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | HG00140.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACTN1 | ACTN1, ACTN1-DT | rs528259074-T | - | MODIFIER | chr14 | A | T |
|
chr14:68958750
|
c.105+20202A>G | Platelet distribution width0.27916458 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACTN1 | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
|
chr14:68870229
|
c.*4630A>G | Mean platelet volume0.027442936 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0004a0001c0012a0001c0017others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0004a0001c0004t0001a0001c0004t0004others(4): Show | a0001c0001t0002g0066a0001c0002t0003g0129a0001c0002t0003g0130a0001c0002t0003g0131a0001c0002t0003g0132others(67): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00639.hp2 HG00735.hp2 others(67): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | BLZF2P | BLZF2P - ACTN1 | rs12586692-C | - | MODIFIER | chr14 | T | C |
|
chr14:68948606
|
c.106-22934G>T | Mean platelet volume0.028004766 | a0001 | a0001c0001a0001c0002a0001c0010a0001c0018a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0002t0004a0001c0010t0002a0001c0018t0001others(1): Show | a0001c0001t0001g0219a0001c0001t0001g0255a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0009others(57): Show | HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 others(58): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACTN1 | ACTN1 | rs2268981-A | - | MODIFIER | chr14 | C | A |
|
chr14:68958750
|
c.105+20202A>G | Mean platelet volume0.40656295 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACTN1 | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
|
chr14:68958750
|
c.105+20202A>G | Plateletcrit0.17761326 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACTN1 | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
|
chr14:68958750
|
c.105+20202A>G | Platelet count0.33953863 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACTN1 | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
|
chr14:68958750
|
c.105+20202A>G | platelet count (minimum, inv-norm transformed)others(12): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,799 African American or Afro-Caribbean individ others(130): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | platelet count (mean, inv-norm transformed)others(9): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,731 African American or Afro-Caribbean individ others(130): Show |
ACTN1 | rs117672662-T | - | MODIFIER | chr14 | T | C | |
|
chr14:68958750
|
c.105+20202A>G | Platelet distribution width (UKB data field 30110)others(19): Show | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0144 | HG02004.hp1 HG02683.hp1 |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ACTN1 | rs117672662-C | - | MODIFIER | chr14 | T | C |
