| 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 |
| 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 |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:66548041
|
G | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(64): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011others(31): Show | 67 | 400 | 0.1675 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | c.147+957G>C | ||||||
|
chr11:66548190
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(92): Show | 171 | 400 | 0.4275 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | c.147+1106C>G | ||||||
|
chr11:66549732
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0008others(18): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(136): Show | 303 | 400 | 0.7575 | 1 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | c.148-1484dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:66550352
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(93): Show | 176 | 400 | 0.4400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | c.148-887G>A | ||||||
|
chr11:66551501
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(93): Show | 176 | 400 | 0.4400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 2/20 | c.263-27G>A | ||||||
|
chr11:66551791
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(281): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0024others(20): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 284 | 400 | 0.7100 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.382+144G>A | ||||||
|
chr11:66551842
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(251): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0024others(18): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(131): Show | 254 | 400 | 0.6350 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.382+195A>G | ||||||
|
chr11:66552369
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(112): Show | 218 | 400 | 0.5450 | -1 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.382+734delA | INFO_REALIGN_3_PRIME | |||||
|
chr11:66552778
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(394): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0008others(26): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(196): Show | 397 | 400 | 0.9925 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.382+1131C>A | ||||||
|
chr11:66552880
|
TCACA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(97): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0006others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(47): Show | 100 | 400 | 0.2500 | -4 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.383-1136_383-1133delCACA | INFO_REALIGN_3_PRIME | |||||
|
chr11:66552886
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(122): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0006others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 125 | 400 | 0.3125 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.383-1159A>T | ||||||
|
chr11:66552888
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(161): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(85): Show | 164 | 400 | 0.4100 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.383-1157A>T | ||||||
|
chr11:66552890
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(157): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 160 | 400 | 0.4000 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.383-1155A>T | ||||||
|
chr11:66553832
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(93): Show | 176 | 400 | 0.4400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.383-213T>C | ||||||
|
chr11:66553833
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(93): Show | 176 | 400 | 0.4400 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | c.383-212G>A | ||||||
|
chr11:66554288
|
AC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(100): Show | 209 | 400 | 0.5225 | -1 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4/20 | c.469+159delC | INFO_REALIGN_3_PRIME | |||||
|
chr11:66554456
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0008others(12): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(92): Show | 175 | 400 | 0.4375 | 1 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4/20 | c.470-64dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:66556760
|
G | GTGTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0008others(21): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(166): Show | 328 | 400 | 0.8200 | 5 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 8/20 | c.805-361_805-357dupGTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:66556889
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(117): Show | 237 | 400 | 0.5925 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 8/20 | c.805-244T>G | ||||||
|
chr11:66556951
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0004c0005others(7): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(87): Show | 168 | 400 | 0.4200 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 8/20 | c.805-182C>T | ||||||
|
chr11:66557112
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(240): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 243 | 400 | 0.6075 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 8/20 | c.805-21T>C | ||||||
|
chr11:66557291
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(117): Show | 237 | 400 | 0.5925 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 9/20 | c.897+66C>T | ||||||
|
chr11:66558359
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(117): Show | 237 | 400 | 0.5925 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 11/20 | c.1276+185A>G | ||||||
|
chr11:66558891
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0024others(18): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(126): Show | 246 | 400 | 0.6150 | 0 | ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 11/20 | c.1277-345A>G |
| 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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/0 | c0002 | 2706 | 138 | 12 | 26 | 82 | 1 | 17 | copy fasta | chr11 | 66541903 | 66568334 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 1/1 | t0001 | 177 | 350 | 84 | 57 | 157 | 12 | 38 | copy fasta | chr11 | 66541903 | 66568334 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/0 | g0069 | 1 | 0 | 0 | 1 | 0 | 0 | chr11 | 66541903 | 66568334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/0 | a0002c0002 | 138 | 12 | 26 | 82 | 1 | 17 | 2706 | copy fasta | chr11 | 66541903 | 66568334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/0 | a0002c0002t0001 | 136 | 12 | 24 | 82 | 1 | 17 | 2882 | copy fasta | chr11 | 66541903 | 66568334 |
| 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3 | 0/0 | a0002c0002t0001g0069 | 1 | 0 | 0 | 1 | 0 | 0 | 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 | -0.7937 | -0.7937 | -0.7937 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551239 | + | 2 | 0.9892 | 0.9892 | 0.9892 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551353 | + | 2 | -0.9892 | -0.9892 | -0.9892 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551528 | + | 3 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66551647 | + | 3 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554045 | + | 4 | 0.9909 | 0.9909 | 0.9909 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554131 | + | 4 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554536 | + | 5 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66554623 | + | 5 | -0.9773 | -0.9773 | -0.9773 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555130 | + | 6 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555208 | + | 6 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555286 | + | 7 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66555367 | + | 7 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66556145 | + | 8 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66556230 | + | 8 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557133 | + | 9 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557225 | + | 9 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557699 | + | 10 | 0.9847 | 0.9847 | 0.9847 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66557929 | + | 10 | -0.9847 | -0.9847 | -0.9847 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66558027 | + | 11 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66558174 | + | 11 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559236 | + | 12 | 0.9779 | 0.9779 | 0.9779 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559386 | + | 12 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66559968 | + | 13 | 0.9918 | 0.9918 | 0.9918 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560076 | + | 13 | -0.9861 | -0.9861 | -0.9861 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560171 | + | 14 | 0.9982 | 0.9982 | 0.9982 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560311 | + | 14 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560573 | + | 15 | 0.9971 | 0.9971 | 0.9971 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66560755 | + | 15 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561227 | + | 16 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561361 | + | 16 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561458 | + | 17 | 0.9869 | 0.9869 | 0.9869 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66561637 | + | 17 | -0.9883 | -0.9883 | -0.9883 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562022 | + | 18 | 0.9841 | 0.9841 | 0.9841 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562168 | + | 18 | -0.9767 | -0.9767 | -0.9767 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562257 | + | 19 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562322 | + | 19 | -0.9937 | -0.9937 | -0.9937 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562796 | + | 20 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66562954 | + | 20 | -0.9999 | -0.9999 | -0.9999 | 0.0000 | acceptor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.hp1 | ACTN3 | chr11 | 66541903 | 66568334 |
| 66563035 | + | 21 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0002c0002t0001g0069 | HG02165.hp1 | HG02165.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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 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 | |
|
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 | |
|
chr11:66558891
|
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 | |
|
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 | |
|
chr11:66560624
|
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 | |
|
chr11:66560624
|
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 | |
|
chr11:66560624
|
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 |