| geneid | 88 |
|---|---|
| ensemblid | ENSG00000077522.15 |
| hgncid | 164 |
| symbol | ACTN2 |
| name | actinin alpha 2 |
| refseq_nuc | NM_001103.4 |
| refseq_prot | NP_001094.1 |
| ensembl_nuc | ENST00000366578.6 |
| ensembl_prot | ENSP00000355537.4 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 236686499 |
| end | 236764631 |
| strand | + |
| ver | v1.2 |
| region | chr1:236686499-236764631 |
| region5000 | chr1:236681499-236769631 |
| regionname0 | ACTN2_chr1_236686499_236764631 |
| regionname5000 | ACTN2_chr1_236681499_236769631 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:236719003
|
T | C | 0.9826 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(335): Show | 338 | 344 | 0 | ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3/21 | c.351T>C | p.Ile117Ile | 526/4872 | 351/2685 | 117/894 | ||
|
chr1:236720121
|
C | T | 0.8895 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(303): Show | 306 | 344 | 0 | ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/21 | c.378C>T | p.Asn126Asn | 553/4872 | 378/2685 | 126/894 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:236763573
|
G | A | 0.1454 | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0021others(4): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0003g0022others(47): Show | 50 | 344 | 0 | ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 21/21 | c.*954G>A | 954 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN2 | 1/1 | a0001 | 894 | 320 | 88 | 61 | 121 | 12 | 36 | subcellular location copy fasta | chr1 | 236681499 | 236769631 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN2 | 0/1 | c0001 | 2685 | 184 | 32 | 36 | 82 | 6 | 27 | copy fasta | chr1 | 236681499 | 236769631 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN2 | 0/0 | t0003 | 2188 | 49 | 1 | 4 | 34 | 1 | 9 | copy fasta | chr1 | 236681499 | 236769631 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN2 | 0/1 | a0001c0001 | 184 | 32 | 36 | 82 | 6 | 27 | 2685 | copy fasta | chr1 | 236681499 | 236769631 |
| 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN2 | 0/0 | a0001c0001t0003 | 42 | 1 | 3 | 30 | 0 | 8 | 4872 | copy fasta | chr1 | 236681499 | 236769631 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 236686799 | + | 1 | -0.9514 | -0.9493 | -0.9466 | 0.0048 | acceptor | a0001c0001t0003 | HG02698.hp1 NA18967.hp2 |
NA19005.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236717858 | + | 2 | 0.9989 | 0.9989 | 0.9988 | 0.0001 | donor | a0001c0001t0003 | NA19000.hp2 | HG02723.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236717972 | + | 2 | -0.9980 | -0.9980 | -0.9979 | 0.0001 | acceptor | a0001c0001t0003 | HG03710.hp2 | NA19003.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236718894 | + | 3 | 0.9925 | 0.9923 | 0.9919 | 0.0005 | donor | a0001c0001t0003 | HG02027.hp2 | HG02723.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236719013 | + | 3 | -0.9979 | -0.9979 | -0.9978 | 0.0001 | acceptor | a0001c0001t0003 | NA19000.hp2 NA19003.hp1 |
HG00438.hp1 HG02738.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 others(3): Show |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236720105 | + | 4 | 0.9980 | 0.9975 | 0.9971 | 0.0009 | donor | a0001c0001t0003 | HG01175.hp1 | NA18955.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236720191 | + | 4 | -0.9989 | -0.9989 | -0.9988 | 0.0002 | acceptor | a0001c0001t0003 | HG00544.hp1 | NA18986.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236725933 | + | 5 | 0.2885 | 0.2536 | 0.2292 | 0.0593 | donor | a0001c0001t0003 | HG01496.hp2 | NA18945.hp2 NA19009.hp1 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236726020 | + | 5 | -0.4270 | -0.4111 | -0.3926 | 0.0345 | acceptor | a0001c0001t0003 | HG02723.hp1 | NA18945.hp2 NA19009.hp1 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236727756 | + | 6 | -0.1631 | -0.1587 | -0.1219 | 0.0412 | acceptor | a0001c0001t0003 | NA19000.hp2 | HG01496.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236731233 | + | 7 | 0.9983 | 0.9982 | 0.9979 | 0.0004 | donor | a0001c0001t0003 | NA19005.hp2 | NA19077.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236731314 | + | 7 | -0.9970 | -0.9964 | -0.9959 | 0.0011 | acceptor | a0001c0001t0003 | NA19005.hp2 | HG04115.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236735635 | + | 8 | 0.8598 | 0.8415 | 0.8068 | 0.0530 | donor | a0001c0001t0003 | NA19086.hp1 | NA18949.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236735720 | + | 8 | -0.9391 | -0.9045 | -0.8394 | 0.0997 | acceptor | a0001c0001t0003 | NA18969.hp2 | NA18949.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236737122 | + | 9 | 0.9793 | 0.9404 | 0.9131 | 0.0662 | donor | a0001c0001t0003 | NA18967.hp2 NA19000.hp2 |
NA18949.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236737214 | + | 9 | -0.9765 | -0.9715 | -0.7455 | 0.2309 | acceptor | a0001c0001t0003 | HG01496.hp2 | NA19086.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236739302 | + | 10 | 0.9988 | 0.9977 | 0.9969 | 0.0019 | donor | a0001c0001t0003 | NA18949.hp2 | NA19086.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236739532 | + | 10 | -0.9990 | -0.9985 | -0.9982 | 0.0007 | acceptor | a0001c0001t0003 | NA18969.hp2 | NA18986.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236742896 | + | 11 | 0.9885 | 0.9851 | 0.9847 | 0.0037 | donor | a0001c0001t0003 | NA18943.hp1 NA18955.hp2 NA18960.hp2 NA18986.hp2 NA18989.hp1 |
HG03017.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236743043 | + | 11 | -0.9965 | -0.9960 | -0.9959 | 0.0005 | acceptor | a0001c0001t0003 | HG00738.hp1 HG01175.hp1 HG02738.hp1 NA18955.hp1 NA19077.hp2 |
HG02698.hp1 NA18969.hp2 NA19003.hp1 NA19086.hp1 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236744626 | + | 12 | 0.9988 | 0.9987 | 0.9987 | 0.0001 | donor | a0001c0001t0003 | HG03017.hp2 | HG03710.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236744776 | + | 12 | -0.9991 | -0.9991 | -0.9989 | 0.0002 | acceptor | a0001c0001t0003 | HG00738.hp1 HG03831.hp1 NA18943.hp1 NA18955.hp1 NA18955.hp2 others(4): Show |
HG03017.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236747667 | + | 13 | 0.9978 | 0.9974 | 0.9970 | 0.0008 | donor | a0001c0001t0003 | NA18943.hp1 NA18955.hp2 NA18960.hp2 NA18989.hp1 |
HG03710.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236747775 | + | 13 | -0.9926 | -0.9922 | -0.9913 | 0.0013 | acceptor | a0001c0001t0003 | HG02738.hp1 | NA18986.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236749124 | + | 14 | 0.9991 | 0.9991 | 0.9991 | 0.0001 | donor | a0001c0001t0003 | NA18967.hp2 | HG02723.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236749264 | + | 14 | -0.9978 | -0.9973 | -0.9971 | 0.0007 | acceptor | a0001c0001t0003 | HG03710.hp2 | NA18949.hp2 NA18955.hp1 NA19077.hp2 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236751470 | + | 15 | 0.9827 | 0.9760 | 0.9737 | 0.0091 | donor | a0001c0001t0003 | HG00738.hp1 | HG03017.hp2 NA18955.hp1 NA19077.hp2 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236751652 | + | 15 | -0.9987 | -0.9987 | -0.9984 | 0.0003 | acceptor | a0001c0001t0003 | HG03017.hp2 NA18949.hp2 NA18955.hp1 NA19005.hp2 NA19077.hp2 |
HG00673.hp1 HG02738.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 others(4): Show |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236753947 | + | 16 | 0.9967 | 0.9963 | 0.9958 | 0.0008 | donor | a0001c0001t0003 | NA18955.hp1 NA19077.hp2 |
HG00438.hp1 NA18969.hp2 NA18979.hp1 NA19000.hp2 NA19003.hp1 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236754081 | + | 16 | -0.9991 | -0.9990 | -0.9989 | 0.0002 | acceptor | a0001c0001t0003 | HG02015.hp2 | NA18949.hp2 NA19005.hp2 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236755019 | + | 17 | 0.9920 | 0.9886 | 0.9872 | 0.0047 | donor | a0001c0001t0003 | HG03688.hp2 | NA18949.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236755198 | + | 17 | -0.9989 | -0.9924 | -0.9899 | 0.0090 | acceptor | a0001c0001t0003 | HG03831.hp1 | HG02738.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236757486 | + | 18 | 0.9990 | 0.9987 | 0.9987 | 0.0003 | donor | a0001c0001t0003 | HG03831.hp1 | NA19010.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236757632 | + | 18 | -0.9813 | -0.9793 | -0.9782 | 0.0030 | acceptor | a0001c0001t0003 | HG03688.hp2 | HG02015.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236759724 | + | 19 | 0.9978 | 0.9977 | 0.9977 | 0.0001 | donor | a0001c0001t0003 | HG00438.hp1 NA18969.hp2 NA18979.hp1 NA19000.hp2 |
NA18955.hp1 NA19077.hp2 |
ACTN2 | chr1 | 236681499 | 236769631 |
| 236759789 | + | 19 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0003 | HG00438.hp1 NA18969.hp2 NA18979.hp1 NA19000.hp2 |
HG02015.hp2 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236761015 | + | 20 | 0.9912 | 0.9908 | 0.9891 | 0.0021 | donor | a0001c0001t0003 | NA18967.hp2 | NA19003.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236761173 | + | 20 | -0.9979 | -0.9970 | -0.9970 | 0.0009 | acceptor | a0001c0001t0003 | NA18967.hp2 | HG02698.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 236762461 | + | 21 | 0.9918 | 0.9913 | 0.9911 | 0.0007 | donor | a0001c0001t0003 | NA19003.hp1 | HG02698.hp1 | ACTN2 | chr1 | 236681499 | 236769631 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:236748757
|
c.1516-367T>C | Periodontitis (CDC/AAP)1.52 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0010a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0009a0001c0001t0012others(14): Show | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0141a0001c0001t0001g0144a0001c0001t0001g0148others(69): Show | HG00438.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp2 others(69): Show |
Genome-wide association study of chronic periodont others(36): Show |
up to 3,915 European ancestry individuals/ | ACTN2 | ACTN2 | rs12048046-T | + | MODIFIER | chr1 | T | C |
|
chr1:236700531
|
c.126+13732C>T |
OTU97_53 (Bacteroides) abundance0.260785 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0144a0001c0001t0001g0145others(25): Show | HG00609.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 others(25): Show |
Genome-wide association study in 8,956 German indi others(73): Show |
8,956 German ancestry individuals/ | ACTN2 | rs12736189-? | + | MODIFIER | chr1 | C | T | |
|
chr1:236700531
|
c.126+13732C>T | OTU99_58 (Bacteroides) abundance0.295823 | a0001 | a0001c0001a0001c0002a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0144a0001c0001t0001g0145others(25): Show | HG00609.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 others(25): Show |
Genome-wide association study in 8,956 German indi others(73): Show |
8,956 German ancestry individuals/ | ACTN2 | rs12736189-? | + | MODIFIER | chr1 | C | T | |
|
chr1:236712957
|
c.127-4901C>A | Externalizing behaviour (multivariate analysis)others(12): Show | a0001a0002a0006a0007 | a0001c0001a0001c0002a0001c0007a0001c0010a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0009a0001c0001t0017others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0114a0001c0001t0001g0159a0001c0001t0001g0251others(102): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp1 others(102): Show |
Multivariate analysis of 1.5 million people identi others(79): Show |
up to 53,293 European ancestry Attention-deficit/h others(517): Show |
ACTN2 | rs4659704-C | + | MODIFIER | chr1 | C | A | |
|
chr1:236691673
|
c.126+4874T>C |
Age of smoking initiation (MTAG)0.008813 others(2): Show |
a0001a0002a0006a0007 | a0001c0001a0001c0002a0001c0021a0001c0027a0001c0030others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0009a0001c0001t0012others(12): Show | a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(94): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(94): Show |
Association studies of up to 1.2 million individua others(75): Show |
up to 931,815 European ancestry individuals/ | NR | ACTN2 | rs12142143-C | + | MODIFIER | chr1 | T | C |
|
chr1:236709529
|
c.127-8329G>A | Smoking initiation (ever regular vs never regular)others(21): Show | a0001a0002a0007 | a0001c0001a0001c0002a0001c0010a0001c0021a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0018a0001c0001t0019others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0114a0001c0001t0001g0159a0001c0001t0001g0251others(95): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp1 others(95): Show |
Association studies of up to 1.2 million individua others(75): Show |
up to 1,232,091 European ancestry individuals/ | NR | ACTN2 | rs12563365-A | + | MODIFIER | chr1 | G | A |
|
chr1:236709529
|
c.127-8329G>A | Smoking initiation (ever regular vs never regular) (MTAG)others(27): Show | a0001a0002a0007 | a0001c0001a0001c0002a0001c0010a0001c0021a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0018a0001c0001t0019others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0114a0001c0001t0001g0159a0001c0001t0001g0251others(95): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp1 others(95): Show |
Association studies of up to 1.2 million individua others(75): Show |
up to 1,359,002 European ancestry individuals/ | NR | ACTN2 | rs12563365-A | + | MODIFIER | chr1 | G | A |
|
chr1:236691673
|
c.126+4874T>C | Educational attainment0.00601695 | a0001a0002a0006a0007 | a0001c0001a0001c0002a0001c0021a0001c0027a0001c0030others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0009a0001c0001t0012others(12): Show | a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(94): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(94): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | ACTN2 | rs12142143-T | + | MODIFIER | chr1 | T | C | |
|
chr1:236691872
|
c.126+5073A>G | Verbal learning4.754 | a0001a0008 | a0001c0001a0001c0007a0001c0011a0001c0016a0008c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0007t0004others(4): Show | a0001c0001t0001g0103a0001c0001t0001g0110a0001c0001t0003g0104a0001c0001t0003g0105a0001c0001t0003g0111others(7): Show | HG00609.hp2 HG00738.hp2 HG01081.hp2 HG01258.hp1 HG01496.hp2 others(7): Show |
Genome-wide meta-analyses reveal novel loci for ve others(36): Show |
28,909 European ancestry individuals/3,853 Europea others(22): Show |
ACTN2 | rs3893143-G | + | MODIFIER | chr1 | A | G | |
|
chr1:236709945
|
c.127-7913T>C | Smoking initiation (MTAG)0.009122 | a0001a0002a0006a0007 | a0001c0001a0001c0002a0001c0010a0001c0021a0001c0025others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0018a0001c0001t0019others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0114a0001c0001t0001g0159a0001c0001t0001g0251others(96): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp1 others(96): Show |
Identifying Genetic Loci and Phenomic Associations others(70): Show |
632,802 European ancestry individuals (MTAG effect others(101): Show |
ACTN2 | rs4659702-? | + | MODIFIER | chr1 | T | C | |
|
chr1:236688982
|
c.126+2183A>T | Heart failure0.025 | a0001a0002a0007a0008 | a0001c0001a0001c0002a0001c0007a0001c0011a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(17): Show | a0001c0001t0001g0103a0001c0001t0001g0110a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258others(104): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(104): Show |
Common-variant and rare-variant genetic architectu others(57): Show |
168,363 European ancestry cases, 1,725,558 Europea others(242): Show |
ACTN2 | rs12724121-A | + | MODIFIER | chr1 | A | T | |
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chr1:236688982
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c.126+2183A>T |
Heart failure (multivariate analysis)0.0 others(9): Show |
a0001a0002a0007a0008 | a0001c0001a0001c0002a0001c0007a0001c0011a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(17): Show | a0001c0001t0001g0103a0001c0001t0001g0110a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258others(104): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(104): Show |
Genome-wide association and multi-trait analyses c others(61): Show |
17,917 African ancestry individuals, 4,293 admixed others(101): Show |
ACTN2 | rs12724121-? | + | MODIFIER | chr1 | A | T | |
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chr1:236686956
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c.126+157A>G | Smoking initiation0.00914 | a0001a0002a0007 | a0001c0001a0001c0002a0001c0006a0001c0021a0001c0027others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(11): Show | a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(91): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(91): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
2,669,029 European ancestry individuals/ | ACTN2 | rs12046163-G | + | MODIFIER | chr1 | A | G | |
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chr1:236689867
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c.126+3068G>A | End-diastolic bi-ventricular shape (principal component 5)others(23): Show | a0001a0002a0007a0008 | a0001c0001a0001c0002a0001c0007a0001c0011a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(17): Show | a0001c0001t0001g0103a0001c0001t0001g0110a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258others(104): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(104): Show |
Genetic basis of right and left ventricular heart others(6): Show |
35,055 European ancestry individuals/ | ACTN2 | rs4659701-G | + | MODIFIER | chr1 | G | A | |
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chr1:236689867
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c.126+3068G>A | QRS duration0.0165 | a0001a0002a0007a0008 | a0001c0001a0001c0002a0001c0007a0001c0011a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(17): Show | a0001c0001t0001g0103a0001c0001t0001g0110a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258others(104): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(104): Show |
Genetic analyses of the electrocardiographic QT in others(64): Show |
252,730 European ancestry, African ancestry, Hispa others(83): Show |
ACTN2 | rs4659701-A | + | MODIFIER | chr1 | G | A | |
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chr1:236684968
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c.-1706A>G | Smoking initiation0.00889 | a0001a0002a0006a0007 | a0001c0001a0001c0002a0001c0021a0001c0027a0001c0030others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(11): Show | a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(89): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(89): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
3,382,012 European ancestry, East Asian ancestry, others(57): Show |
ACTN2 | rs4659700-G | + | MODIFIER | chr1 | A | G | |
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chr1:236686956
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c.126+157A>G | Smoking initiation0.00883 | a0001a0002a0007 | a0001c0001a0001c0002a0001c0006a0001c0021a0001c0027others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0012a0001c0001t0018others(11): Show | a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(91): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(91): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
3,382,012 European ancestry, East Asian ancestry, others(57): Show |
ACTN2 | rs12046163-G | + | MODIFIER | chr1 | A | G |
