| geneid | 390928 |
|---|---|
| ensemblid | ENSG00000183760.11 |
| hgncid | 33781 |
| symbol | ACP7 |
| name | acid phosphatase 7, tartrate resistant (putative) |
| refseq_nuc | NM_001004318.3 |
| refseq_prot | NP_001004318.2 |
| ensembl_nuc | ENST00000331256.10 |
| ensembl_prot | ENSP00000327557.4 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 39084368 |
| end | 39111493 |
| strand | + |
| ver | v1.2 |
| region | chr19:39084368-39111493 |
| region5000 | chr19:39079368-39116493 |
| regionname0 | ACP7_chr19_39084368_39111493 |
| regionname5000 | ACP7_chr19_39079368_39116493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39100315
|
G | A | 0.6542 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(260): Show | 263 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 5/13 | c.594G>A | p.Pro198Pro | 805/2903 | 594/1317 | 198/438 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39110552
|
C | T | 0.3259 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(128): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(11): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(128): Show | 131 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*434C>T | 434 | |||||
|
chr19:39110997
|
G | A | 0.2736 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(107): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(107): Show | 110 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*879G>A | 879 | |||||
|
chr19:39111268
|
C | G | 0.2736 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(107): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(107): Show | 110 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*1150C>G | 1150 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39088726
|
GGTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(124): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(124): Show | 127 | 402 | 0.3159 | -8 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+3365_121+3372delGTTTGTTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39089358
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(328): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(50): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(328): Show | 331 | 402 | 0.8234 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+3968A>G | ||||||
|
chr19:39090790
|
CT | C | intron_variant | MODIFIER | HG01069.hp2 HG01943.hp2 HG02027.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0003 | a0001c0001t0001g0308a0001c0001t0001g0356a0001c0002t0002g0119others(3): Show | 6 | 402 | 0.0149 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+5417delT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39091086
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(122): Show | 125 | 402 | 0.3110 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+5696C>T | ||||||
|
chr19:39092058
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(215): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(215): Show | 218 | 402 | 0.5423 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-6400G>A | ||||||
|
chr19:39092370
|
GTATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(217): Show | 220 | 402 | 0.5473 | -4 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-6067_122-6064delTATA | INFO_REALIGN_3_PRIME | |||||
|
chr19:39092520
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(47): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(321): Show | 324 | 402 | 0.8060 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5938G>A | ||||||
|
chr19:39092771
|
CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(114): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(114): Show | 117 | 402 | 0.2910 | -2 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5664_122-5663delTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39092787
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(131): Show | 134 | 402 | 0.3333 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5671T>C | ||||||
|
chr19:39093090
|
T | TTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(141): Show | 144 | 402 | 0.3582 | 4 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5360_122-5357dupCTTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39093141
|
C | CTGCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(212): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(33): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(212): Show | 215 | 402 | 0.5348 | 4 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5316_122-5315insGCTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39093143
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(235): Show | 238 | 402 | 0.5920 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5315C>T | ||||||
|
chr19:39093172
|
C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00639.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0005others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0308a0001c0001t0001g0310others(23): Show | 26 | 402 | 0.0647 | 46 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39094093
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(124): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(124): Show | 127 | 402 | 0.3159 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-4365T>G | ||||||
|
chr19:39094502
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(218): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(218): Show | 221 | 402 | 0.5498 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-3941delA | INFO_REALIGN_3_PRIME | |||||
|
chr19:39096314
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(116): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(116): Show | 119 | 402 | 0.2960 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-2144A>G | ||||||
|
chr19:39096878
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(127): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(127): Show | 130 | 402 | 0.3234 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-1580G>A | ||||||
|
chr19:39098253
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(147): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(20): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(147): Show | 150 | 402 | 0.3731 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-179delA | INFO_REALIGN_3_PRIME | |||||
|
chr19:39098694
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(317): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(317): Show | 320 | 402 | 0.7960 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 3/12 | c.322+36G>A | ||||||
|
chr19:39099229
|
CG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(127): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(127): Show | 130 | 402 | 0.3234 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/12 | c.505+92delG | INFO_REALIGN_3_PRIME | |||||
|
chr19:39099652
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(260): Show | 263 | 402 | 0.6542 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/12 | c.505+510G>A | ||||||
|
chr19:39099906
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(260): Show | 263 | 402 | 0.6542 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/12 | c.506-321C>T | ||||||
|
chr19:39099992
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(233): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(32): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0032others(233): Show | 236 | 402 | 0.5871 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/12 | c.506-212delA | INFO_REALIGN_3_PRIME | |||||
|
chr19:39100121
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(325): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(48): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(325): Show | 328 | 402 | 0.8159 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/12 | c.506-106G>A | ||||||
|
chr19:39101118
|
G | A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 402 | 0.0025 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 8/12 | c.916-32G>A | ||||||
|
chr19:39101663
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(108): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0005c0016others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(108): Show | 111 | 402 | 0.2761 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+126C>T | ||||||
|
chr19:39101942
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(130): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(130): Show | 133 | 402 | 0.3309 | 1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+421dupA | INFO_REALIGN_3_PRIME | |||||
|
chr19:39102120
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(295): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(39): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(295): Show | 298 | 402 | 0.7413 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+583T>A | ||||||
|
chr19:39102381
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(212): Show | 215 | 402 | 0.5348 | 1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+856dupT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39102657
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(227): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(227): Show | 230 | 402 | 0.5721 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1120A>G | ||||||
|
chr19:39102711
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1174A>G | ||||||
|
chr19:39102715
|
T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01099.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0083a0001c0001t0001g0098others(38): Show | 41 | 402 | 0.1020 | 11 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1180_1113+1181insCTTTCTTTCTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39102769
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(111): Show |
a0001a0005a0006 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(111): Show | 114 | 402 | 0.2836 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1232C>T | ||||||
|
chr19:39102781
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(222): Show | 225 | 402 | 0.5597 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1244T>C | ||||||
|
chr19:39102785
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(122): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(122): Show | 125 | 402 | 0.3110 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1248C>T | ||||||
|
chr19:39102795
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(23): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(221): Show | 224 | 402 | 0.5572 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1258T>C | ||||||
|
chr19:39102903
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1366T>A | ||||||
|
chr19:39102913
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1376A>C | ||||||
|
chr19:39103058
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1521A>G | ||||||
|
chr19:39103072
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1535G>A | ||||||
|
chr19:39103192
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1655C>T | ||||||
|
chr19:39103269
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1732C>T | ||||||
|
chr19:39103322
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1785G>C | ||||||
|
chr19:39103441
|
GTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(55): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(55): Show | 58 | 402 | 0.1443 | -5 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1925_1113+1929delTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39103556
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+2019G>A | ||||||
|
chr19:39103689
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+2152G>A | ||||||
|
chr19:39103767
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+2230G>A | ||||||
|
chr19:39104528
|
G | A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 402 | 0.0025 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-2419G>A | ||||||
|
chr19:39104606
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-2341G>A | ||||||
|
chr19:39105007
|
TTTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(115): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(115): Show | 118 | 402 | 0.2935 | -4 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-1920_1114-1917delATTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39105306
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(40): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(304): Show | 307 | 402 | 0.7637 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-1641T>C | ||||||
|
chr19:39105336
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(224): Show | 227 | 402 | 0.5647 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-1611G>C | ||||||
|
chr19:39105481
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(324): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(47): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(324): Show | 327 | 402 | 0.8134 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-1466A>G | ||||||
|
chr19:39107578
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(124): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(124): Show | 127 | 402 | 0.3159 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1251+516delA | INFO_REALIGN_3_PRIME | |||||
|
chr19:39108139
|
A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(125): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(14): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0032others(125): Show | 128 | 402 | 0.3184 | 1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1251+1073dupT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39109332
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(305): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(41): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(305): Show | 308 | 402 | 0.7662 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1252-721A>G | ||||||
|
chr19:39109597
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(193): Show | 196 | 402 | 0.4876 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1252-456T>C | ||||||
|
chr19:39109685
|
T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(116): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(19): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(116): Show | 119 | 402 | 0.2960 | 1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1252-344dupA | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 1/1 | a0001 | 438 | 395 | 82 | 80 | 175 | 16 | 40 | subcellular location copy fasta | chr19 | 39079368 | 39116493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/1 | c0001 | 1317 | 111 | 16 | 25 | 48 | 8 | 13 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/1 | t0001 | 1587 | 93 | 15 | 22 | 36 | 8 | 11 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/0 | g0308 | 1 | 0 | 0 | 1 | 0 | 0 | chr19 | 39079368 | 39116493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/1 | a0001c0001 | 111 | 16 | 25 | 48 | 8 | 13 | 1317 | copy fasta | chr19 | 39079368 | 39116493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/1 | a0001c0001t0001 | 85 | 8 | 21 | 36 | 8 | 11 | 2903 | copy fasta | chr19 | 39079368 | 39116493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/0 | a0001c0001t0001g0308 | 1 | 0 | 0 | 1 | 0 | 0 | chr19 | 39079368 | 39116493 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 39084400 | + | 1 | -0.5416 | -0.5416 | -0.5416 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39085092 | + | 2 | 0.6044 | 0.6044 | 0.6044 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39085390 | + | 2 | -0.7772 | -0.7772 | -0.7772 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098458 | + | 3 | 0.9857 | 0.9857 | 0.9857 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098658 | + | 3 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098960 | + | 4 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39099142 | + | 4 | -0.9333 | -0.9333 | -0.9333 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100227 | + | 5 | 0.8000 | 0.8000 | 0.8000 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100350 | + | 5 | -0.8250 | -0.8250 | -0.8250 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100580 | + | 6 | 0.9939 | 0.9939 | 0.9939 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100642 | + | 6 | -0.9914 | -0.9914 | -0.9914 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100739 | + | 7 | 0.9977 | 0.9977 | 0.9977 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100853 | + | 7 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100949 | + | 8 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101056 | + | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101150 | + | 9 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101207 | + | 9 | -0.9955 | -0.9955 | -0.9955 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101288 | + | 10 | 0.9960 | 0.9960 | 0.9960 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101355 | + | 10 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101466 | + | 11 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101537 | + | 11 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39106947 | + | 12 | 0.9767 | 0.9767 | 0.9767 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39107084 | + | 12 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39110053 | + | 13 | 0.8356 | 0.8356 | 0.8356 | 0.0000 | donor | a0001c0001t0001g0308 | HG02155.hp1 | HG02155.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39098694
|
c.322+36G>A | Iron/zinc purple acid phosphatase-like protein levelsothers(19): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0013others(43): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0036others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(315): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACP7 | rs560364-G | + | MODIFIER | chr19 | G | A |