| geneid | 89 |
|---|---|
| ensemblid | ENSG00000248746.6 |
| hgncid | 165 |
| symbol | ACTN3 |
| name | actinin alpha 3 |
| refseq_nuc | NM_001104.4 |
| refseq_prot | NP_001095.2 |
| ensembl_nuc | ENST00000513398.2 |
| ensembl_prot | ENSP00000426797.1 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 66546903 |
| end | 66563334 |
| strand | + |
| ver | v1.2 |
| region | chr11:66546903-66563334 |
| region5000 | chr11:66541903-66568334 |
| regionname0 | ACTN3_chr11_66546903_66563334 |
| regionname5000 | ACTN3_chr11_66541903_66568334 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:66560624
|
C | T | 0.3750 | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | c.1729C>T | p.Arg577* | 1764/2882 | 1729/2706 | 577/901 | ||
|
chr11:66561248
|
T | C | 0.6200 | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0024a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0024t0001others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(127): Show | 248 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 16/21 | c.1882T>C | p.Cys628Arg | 1917/2882 | 1882/2706 | 628/901 | ||
|
chr11:66561278
|
C | T | 0.0025 | missense_variant | MODERATE | NA18959.hp1 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0001 | 1 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 16/21 | c.1912C>T | p.Arg638Trp | 1947/2882 | 1912/2706 | 638/901 | ||
|
chr11:66563062
|
C | T | 0.0025 | missense_variant | MODERATE | HG01346.hp1 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0124 | 1 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 21/21 | c.2575C>T | p.Arg859Cys | 2610/2882 | 2575/2706 | 859/901 | ||
|
chr11:66563102
|
G | A | 0.0025 | missense_variant | MODERATE | HG03195.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0036 | 1 | 400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 21/21 | c.2615G>A | p.Arg872His | 2650/2882 | 2615/2706 | 872/901 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/0 | a0002 | 576 | 147 | 14 | 28 | 87 | 1 | 17 | subcellular location copy fasta | chr11 | 66541903 | 66568334 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 66547084 | + | 1 | -0.8131 | -0.7843 | -0.7727 | 0.0403 | acceptor | a0002 | HG01358.hp2 HG03669.hp2 |
HG01106.hp1 HG01169.hp2 HG02293.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66551239 | + | 2 | 0.9905 | 0.9898 | 0.9883 | 0.0022 | donor | a0002 | HG01069.hp2 HG01192.hp2 HG02071.hp1 NA18998.hp2 |
HG02293.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551353 | + | 2 | -0.9892 | -0.9880 | -0.9873 | 0.0019 | acceptor | a0002 | HG02165.hp1 | NA19003.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551528 | + | 3 | 0.9984 | 0.9972 | 0.9971 | 0.0014 | donor | a0002 | HG01106.hp1 HG01169.hp2 HG02165.hp1 HG02293.hp2 |
HG00609.hp2 NA18980.hp1 NA18989.hp2 NA19085.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66551647 | + | 3 | -0.9978 | -0.9959 | -0.9955 | 0.0023 | acceptor | a0002 | HG01106.hp1 HG01169.hp2 HG02293.hp2 |
NA18985.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554045 | + | 4 | 0.9921 | 0.9902 | 0.9896 | 0.0025 | donor | a0002 | HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG03491.hp1 |
NA18979.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554131 | + | 4 | -0.9996 | -0.9996 | -0.9995 | 0.0001 | acceptor | a0002 | HG01192.hp1 HG02015.hp2 NA18949.hp1 NA18952.hp1 NA18968.hp2 |
HG02293.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554536 | + | 5 | 0.9958 | 0.9950 | 0.9940 | 0.0018 | donor | a0002 | HG02293.hp2 | NA18985.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554623 | + | 5 | -0.9851 | -0.9835 | -0.9761 | 0.0090 | acceptor | a0002 | HG02015.hp2 | HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG03491.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66555130 | + | 6 | 0.9992 | 0.9991 | 0.9991 | 0.0001 | donor | a0002 | HG02165.hp1 HG02293.hp2 NA18949.hp1 NA18952.hp1 NA18968.hp2 others(1): Show |
HG02015.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555208 | + | 6 | -0.9968 | -0.9966 | -0.9963 | 0.0004 | acceptor | a0002 | HG00423.hp1 HG01175.hp2 HG02135.hp1 HG02523.hp2 HG03195.hp2 others(7): Show |
HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555286 | + | 7 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0002 | HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02293.hp2 others(1): Show |
HG01074.hp2 HG01346.hp1 HG02135.hp1 NA18962.hp1 NA18964.hp1 others(1): Show |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66555367 | + | 7 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0002 | HG00423.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp2 others(21): Show |
HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 others(116): Show |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66556145 | + | 8 | 0.9976 | 0.9976 | 0.9973 | 0.0003 | donor | a0002 | NA18962.hp1 NA18964.hp1 |
NA19058.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66556230 | + | 8 | -0.9980 | -0.9979 | -0.9976 | 0.0005 | acceptor | a0002 | NA18962.hp1 NA18964.hp1 |
NA19058.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557133 | + | 9 | 0.9995 | 0.9995 | 0.9994 | 0.0000 | donor | a0002 | NA19058.hp2 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557225 | + | 9 | -0.9993 | -0.9992 | -0.9992 | 0.0001 | acceptor | a0002 | NA19081.hp2 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557699 | + | 10 | 0.9849 | 0.9847 | 0.9829 | 0.0019 | donor | a0002 | HG00423.hp1 NA18973.hp2 NA18977.hp1 |
HG01192.hp1 NA18969.hp1 NA19005.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66557929 | + | 10 | -0.9899 | -0.9857 | -0.9745 | 0.0154 | acceptor | a0002 | NA19081.hp2 | HG01123.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66558027 | + | 11 | 0.9973 | 0.9951 | 0.9916 | 0.0057 | donor | a0002 | NA19081.hp2 | HG01123.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66558174 | + | 11 | -0.9982 | -0.9982 | -0.9980 | 0.0003 | acceptor | a0002 | HG01123.hp1 HG01192.hp1 NA18969.hp1 NA19005.hp1 |
HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559236 | + | 12 | 0.9792 | 0.9788 | 0.9757 | 0.0034 | donor | a0002 | NA19058.hp2 | HG01978.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559386 | + | 12 | -0.9954 | -0.9952 | -0.9950 | 0.0003 | acceptor | a0002 | NA18943.hp1 NA18944.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 others(2): Show |
HG01978.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559968 | + | 13 | 0.9921 | 0.9919 | 0.9911 | 0.0010 | donor | a0002 | NA18943.hp1 NA18944.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 others(2): Show |
NA20129.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560076 | + | 13 | -0.9864 | -0.9863 | -0.9858 | 0.0006 | acceptor | a0002 | HG01175.hp2 HG02071.hp1 NA18998.hp2 NA19070.hp1 |
NA20129.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560171 | + | 14 | 0.9982 | 0.9982 | 0.9982 | 0.0001 | donor | a0002 | NA18943.hp1 NA18944.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 others(2): Show |
HG02071.hp1 NA18998.hp2 NA19070.hp1 NA19081.hp2 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560311 | + | 14 | -0.9996 | -0.9996 | -0.9993 | 0.0003 | acceptor | a0002 | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(136): Show |
HG02071.hp1 NA18998.hp2 NA19070.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560573 | + | 15 | 0.9972 | 0.9971 | 0.9971 | 0.0002 | donor | a0002 | NA18959.hp1 | HG02071.hp1 NA18998.hp2 NA19070.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66560755 | + | 15 | -0.9959 | -0.9958 | -0.9953 | 0.0006 | acceptor | a0002 | NA18959.hp1 | HG02071.hp1 NA18998.hp2 NA19070.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66561227 | + | 16 | 0.9962 | 0.9959 | 0.9952 | 0.0010 | donor | a0002 | HG03516.hp1 | NA18959.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561361 | + | 16 | -0.9990 | -0.9989 | -0.9989 | 0.0001 | acceptor | a0002 | NA18959.hp1 | HG03516.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561458 | + | 17 | 0.9871 | 0.9869 | 0.9867 | 0.0004 | donor | a0002 | HG03516.hp1 | HG02071.hp1 NA18998.hp2 NA19070.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66561637 | + | 17 | -0.9891 | -0.9883 | -0.9879 | 0.0012 | acceptor | a0002 | NA18959.hp1 | HG03516.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562022 | + | 18 | 0.9843 | 0.9841 | 0.9840 | 0.0003 | donor | a0002 | NA18959.hp1 | HG03225.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562168 | + | 18 | -0.9770 | -0.9767 | -0.9765 | 0.0005 | acceptor | a0002 | NA18959.hp1 | NA18612.hp2 NA18944.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66562257 | + | 19 | 0.9877 | 0.9876 | 0.9874 | 0.0003 | donor | a0002 | HG03195.hp2 | NA18612.hp2 NA18944.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66562322 | + | 19 | -0.9937 | -0.9937 | -0.9935 | 0.0002 | acceptor | a0002 | NA18959.hp1 | NA18612.hp2 NA18944.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66562796 | + | 20 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0002 | HG01346.hp1 NA18959.hp1 |
HG03195.hp2 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562954 | + | 20 | -0.9999 | -0.9999 | -0.9999 | 0.0000 | acceptor | a0002 | HG01070.hp2 HG01071.hp2 |
NA18612.hp2 NA18944.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 66563035 | + | 21 | 0.9965 | 0.9963 | 0.9947 | 0.0019 | donor | a0002 | HG01346.hp1 | NA18612.hp2 NA18944.hp1 |
ACTN3 | chr11 | 66541903 | 66568334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 66561248:splice 66561248:variant goto | c.1882T>Cp.Cys628Arg | 3059776 | Benign | ACTN3:89 | SO:0001583 missense_variant |
. | + | 17 | 19 | 21 | 130 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0024a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0024t0001a0003c0003t0001a0003c0003t0002others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(125): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(243): Show |
MODERATE | chr11 | T | C | TogoVar |
| 66566172:splice 66566172:variant goto | c.*2979G>A | 259171 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MedGen:CN169374|MedGen:C3661900|MeSH:D030342 others(1): Show |
+ | 3 | 3 | 3 | 20 | a0001a0002a0016 | a0001c0001a0002c0002a0016c0022 | a0001c0001t0001a0002c0002t0001a0016c0022t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(15): Show | HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 others(35): Show |
MODIFIER | chr11 | G | A | TogoVar |
| 66566727:splice 66566727:variant goto | c.*3534_*3535insT | 1261306 | Benign | CTSF:8722 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 3 | 3 | 3 | 7 | a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0001a0002c0002t0001a0009c0012t0001 | a0001c0001t0001g0011a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0186a0002c0002t0001g0001others(2): Show | HG01109.hp1 HG01243.hp2 HG01884.hp1 HG03098.hp2 HG03225.hp2 others(2): Show |
MODIFIER | chr11 | C | CT | TogoVar |
| 66560624:splice 66560624:variant goto | c.1729C>Tp.Arg577* | 18312 | Benign | ACTN3:89 CTSF:8722 |
SO:0001587 nonsense |
.|MedGen:C3888204 OMIM:617749|MedGen:C2319308|.|MedGen:CN169374 |
+ | 4 | 10 | 11 | 70 | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
HIGH | chr11 | C | T | TogoVar |
| 66566171:splice 66566171:variant goto | c.*2978C>T | 2738429 | Likely_benign | CTSF:8722 | SO:0001627 intron_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MedGen:C3661900 |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | NA18990.hp1 | MODIFIER | chr11 | C | T | TogoVar |
| 66566329:splice 66566329:variant goto | c.*3136G>C | 424983 | Conflicting_classifications_of_pathogenicity | CTSF:8722 | SO:0001583 missense_variant |
MedGen:C3661900|MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MeSH:D030342 others(1): Show |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | HG00738.hp1 | MODIFIER | chr11 | G | C | TogoVar |
| 66564952:splice 66564952:variant goto | c.*1759T>C | 1305235 | Conflicting_classifications_of_pathogenicity | CTSF:8722 | SO:0001583 missense_variant |
MONDO:MONDO:0014147 MedGen:C3715049 OMIM:615362 Orphanet:352709 Orphanet:79262|MeSH:D030342 others(1): Show |
+ | 1 | 1 | 1 | 1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0038 | HG01070.hp2 HG01071.hp2 |
MODIFIER | chr11 | T | C | TogoVar |
| 66557911:splice 66557911:variant goto | c.1110C>Tp.Ser370Ser | 3037441 | Likely_benign | ACTN3:89 | SO:0001819 synonymous_variant |
. | + | 1 | 1 | 1 | 2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0040a0002c0008t0001g0109 | HG01192.hp1 NA18969.hp1 NA19005.hp1 |
LOW | chr11 | C | T | TogoVar |
| 66563062:splice 66563062:variant goto | c.2575C>Tp.Arg859Cys | 3042083 | Benign | ACTN3:89 | SO:0001583 missense_variant |
. | + | 1 | 1 | 1 | 1 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0124 | HG01346.hp1 | MODERATE | chr11 | C | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:66556951
|
c.805-182C>T | Red blood cell count | a0001a0002a0004a0006a0010others(5): Show | a0001c0001a0002c0002a0004c0005a0006c0013a0010c0030others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0004c0005t0001a0006c0013t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(85): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 others(163): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 445,000 European ancestry individual others(2): Show |
ACTN3 | rs679228-? | + | MODIFIER | chr11 | C | T | |
|
chr11:66556951
|
c.805-182C>T | Height | a0001a0002a0004a0006a0010others(5): Show | a0001c0001a0002c0002a0004c0005a0006c0013a0010c0030others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0004c0005t0001a0006c0013t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(85): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 others(163): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ACTN3 | rs679228-? | + | MODIFIER | chr11 | C | T | |
|
chr11:66551842
|
c.382+195A>G | Frontotemporal dementia with GRN mutationothers(5): Show | a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0002c0002a0002c0024a0003c0003a0003c0004others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0002c0024t0001a0003c0003t0002others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(129): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(249): Show |
Potential genetic modifiers of disease risk and ag others(113): Show |
382 European ancestry cases, 1,146 European ancest others(72): Show |
ACTN3 | ACTN3 | rs10791882-A | + | MODIFIER | chr11 | A | G |
|
chr11:66557112
|
c.805-21T>C | Bipolar disorder1.05601 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0002a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(121): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(238): Show |
Genome-wide association study of more than 40,000 others(73): Show |
41,917 European ancestry cases, 371,549 European a others(17): Show |
PC | ACTN3 | rs678397-T | + | MODIFIER | chr11 | T | C |
|
chr11:66557112
|
c.805-21T>C |
Cathepsin F (analyte X9212.22) levels0.2 others(3): Show |
a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0002a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(121): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(238): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACTN3 | rs678397-T | + | MODIFIER | chr11 | T | C | |
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chr11:66557112
|
c.805-21T>C | Bcl-2-related protein A1 levels0.168 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0002a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0003c0003t0002a0003c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(121): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(238): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACTN3 | rs678397-T | + | MODIFIER | chr11 | T | C | |
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chr11:66558891
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c.1277-345A>G |
Bipolar disorder or ulcerative colitis (MTAG) others(10): Show |
a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0002c0002a0002c0024a0003c0003a0003c0004others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0002c0024t0001a0003c0003t0002others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(124): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(241): Show |
Genetic correlation, shared loci, but no causality others(93): Show |
41,917 European ancestry bipolar disorder cases, 1 others(85): Show |
ACTN3 | rs509556-A | + | MODIFIER | chr11 | A | G | |
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chr11:66560624
|
c.1729C>Tp.Arg577* | Body composition (MOSTest)11.13 | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
The link between liver fat and cardiometabolic dis others(98): Show |
33,588 European ancestry individuals/ | ACTN3 | rs1815739-? | + | HIGH | chr11 | C | T | |
|
chr11:66560624
|
c.1729C>Tp.Arg577* | Sleep apnea (MTAG)0.018979 | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
Discovery of genomic loci associated with sleep ap others(57): Show |
159,255 European ancestry individuals/ | ACTN3 | rs1815739-? | + | HIGH | chr11 | C | T | |
|
chr11:66561248
|
c.1882T>Cp.Cys628Arg | Photoreceptor cell layer thickness phenotypes (MTAG)others(16): Show | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0002c0024a0003c0003a0003c0004a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0024t0001a0003c0003t0001a0003c0003t0002others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(125): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(243): Show |
Sub-cellular level resolution of common genetic va others(98): Show |
31,135 European ancestry individuals/ | ACTN3 | rs618838-C | + | MODERATE | chr11 | T | C | |
|
chr11:66560624
|
c.1729C>Tp.Arg577* | Estimated glomerular filtration rate (creatinine)others(14): Show | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
ACTN3 | rs1815739-C | + | HIGH | chr11 | C | T | |
|
chr11:66560624
|
c.1729C>Tp.Arg577* | Insomnia0.007 | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
Genome-wide meta-analysis of insomnia prioritizes others(57): Show |
593,724 European ancestry cases, 1,771,286 Europea others(20): Show |
ACTN3 | rs1815739-T | + | HIGH | chr11 | C | T | |
|
chr11:66558013
|
c.1129-14T>C | Systolic blood pressure0.2442 | a0002 | a0002c0002a0002c0026 | a0002c0002t0001a0002c0002t0003a0002c0026t0001 | a0002c0002t0001g0042a0002c0002t0001g0046a0002c0002t0001g0136a0002c0002t0001g0153a0002c0002t0003g0038others(1): Show | HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 others(4): Show |
Genome-wide analysis in over 1 million individuals others(86): Show |
1,028,980 European ancestry individuals/40,204 Afr others(62): Show |
ACTN3 | rs61890399-C | + | MODIFIER | chr11 | T | C | |
|
chr11:66550854
|
c.148-385C>T | Lung function (FEV1)7.627 | a0002a0003a0015 | a0002c0002a0003c0004a0015c0020 | a0002c0002t0001a0003c0004t0001a0015c0020t0001 | a0002c0002t0001g0030a0002c0002t0001g0031a0002c0002t0001g0057a0003c0004t0001g0008a0003c0004t0001g0015others(7): Show | HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01192.hp2 HG01255.hp1 others(20): Show |
Multi-ancestry genome-wide association analyses im others(112): Show |
475,645 European ancestry individuals, 8,590 Afric others(151): Show |
ACTN3 | rs57127845-T | + | MODIFIER | chr11 | C | T | |
|
chr11:66549597
|
c.148-1642G>A | Urine uric Acid levels0.50061 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | NA18943.hp1 NA18944.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 others(2): Show |
Korea4K: whole genome sequences of 4,157 Koreans w others(59): Show |
1,951 Korean ancestry individuals/ | ACTN3 | rs151207527-A | + | MODIFIER | chr11 | G | A | |
|
chr11:66558013
|
c.1129-14T>C | Diastolic blood pressure0.1318 | a0002 | a0002c0002a0002c0026 | a0002c0002t0001a0002c0002t0003a0002c0026t0001 | a0002c0002t0001g0042a0002c0002t0001g0046a0002c0002t0001g0136a0002c0002t0001g0153a0002c0002t0003g0038others(1): Show | HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 others(4): Show |
Genome-wide analysis in over 1 million individuals others(86): Show |
1,028,980 European ancestry individuals/62,047 Afr others(62): Show |
ACTN3 | rs61890399-C | + | MODIFIER | chr11 | T | C | |
|
chr11:66560624
|
c.1729C>Tp.Arg577* | Growth/differentiation factor 11/8 levels (GDF11.MSTN.2765.4.3)others(27): Show | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
Genomic atlas of the human plasma proteome. | 3,301 European ancestry individuals/ | ACTN3 | rs1815739-C | + | HIGH | chr11 | C | T | |
|
chr11:66542909
|
c.-4029C>T | Cathepsin F levels0.203515 | a0001a0002a0006a0010a0012others(3): Show | a0001c0001a0002c0002a0006c0013a0010c0030a0012c0017others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001a0006c0013t0001a0010c0030t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(64): Show | HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 others(118): Show |
Differences and commonalities in the genetic archi others(76): Show |
2,935 Qatari ancestry individuals/ | ZDHHC24 | rs610293-T | + | MODIFIER | chr11 | C | T | |
|
chr11:66560624
|
c.1729C>Tp.Arg577* | MSTN/RGMA protein level ratio0.0903752 | a0002a0011a0013a0020 | a0002c0002a0002c0008a0002c0011a0002c0024a0002c0025others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001a0002c0011t0001a0002c0024t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0013a0002c0002t0001g0016others(65): Show | HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 others(145): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | ACTN3 | rs1815739-? | + | HIGH | chr11 | C | T |