| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39098549
|
C | T | 0.2711 | synonymous_variant | LOW | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(106): Show |
a0001 | a0001c0002a0001c0009a0001c0017others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(12): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(106): Show | 109 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 3/13 | c.213C>T | p.Pro71Pro | 424/2903 | 213/1317 | 71/438 | ||
|
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39085110
|
T | C | 0.2338 | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0015others(16): Show | a0001c0001t0011g0166a0001c0001t0011g0167a0001c0001t0011g0168others(91): Show | 94 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/13 | c.-160T>C | 160 | |||||
|
chr19:39085130
|
C | CCCT | 0.2264 | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0015others(16): Show | a0001c0001t0011g0166a0001c0001t0011g0167a0001c0001t0011g0168others(88): Show | 91 | 402 | 3 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/13 | c.-139_-137dupCCT | 136 | INFO_REALIGN_3_PRIME | ||||
|
chr19:39110500
|
T | C | 0.2836 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(111): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(16): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(111): Show | 114 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*382T>C | 382 | |||||
|
chr19:39110530
|
G | A | 0.2786 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(109): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(14): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(109): Show | 112 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*412G>A | 412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39084536
|
AG | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(199): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(199): Show | 202 | 402 | 0.5025 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 1/12 | c.-179+139delG | INFO_REALIGN_3_PRIME | |||||
|
chr19:39085622
|
G | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0002a0001c0002t0005 | a0001c0001t0015g0118a0001c0002t0002g0114a0001c0002t0002g0115others(13): Show | 16 | 402 | 0.0398 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+232G>A | ||||||
|
chr19:39085949
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(212): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(36): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(212): Show | 215 | 402 | 0.5348 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+559T>G | ||||||
|
chr19:39085953
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(20): Show | a0001c0001t0001g0201a0001c0001t0001g0230a0001c0001t0011g0166others(106): Show | 109 | 402 | 0.2711 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+563C>T | ||||||
|
chr19:39086104
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(24): Show | a0001c0001t0001g0201a0001c0001t0001g0230a0001c0001t0011g0166others(117): Show | 120 | 402 | 0.2985 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+714A>G | ||||||
|
chr19:39086641
|
A | AG | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(26): Show | a0001c0001t0001g0201a0001c0001t0001g0204a0001c0001t0001g0225others(131): Show | 134 | 402 | 0.3333 | 1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+1261dupG | INFO_REALIGN_3_PRIME | |||||
|
chr19:39086659
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(199): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(32): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(199): Show | 202 | 402 | 0.5025 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+1269T>C | ||||||
|
chr19:39086724
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(195): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(30): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(195): Show | 198 | 402 | 0.4925 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+1334A>C | ||||||
|
chr19:39086788
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(275): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(43): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(272): Show | 278 | 402 | 0.6915 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+1398G>C | ||||||
|
chr19:39087100
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(192): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(29): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(192): Show | 195 | 402 | 0.4851 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+1710G>A | ||||||
|
chr19:39087632
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(243): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(240): Show | 246 | 402 | 0.6119 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+2261delT | INFO_REALIGN_3_PRIME | |||||
|
chr19:39087638
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(179): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(179): Show | 182 | 402 | 0.4527 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+2248T>G | ||||||
|
chr19:39087643
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(179): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(179): Show | 182 | 402 | 0.4527 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+2253T>G | ||||||
|
chr19:39087648
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(178): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(178): Show | 181 | 402 | 0.4503 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+2258T>G | ||||||
|
chr19:39087909
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(182): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(27): Show | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0040others(182): Show | 185 | 402 | 0.4602 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+2519C>T | ||||||
|
chr19:39088726
|
GGTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0011a0001c0001t0015a0001c0002t0002others(10): Show | a0001c0001t0011g0166a0001c0001t0011g0167a0001c0001t0011g0168others(88): Show | 91 | 402 | 0.2264 | -12 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.121+3361_121+3372delGTTTGTTTGTTT | 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 | ||||||
|
chr19:39092058
|
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 | ||||||
|
chr19:39092520
|
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 | ||||||
|
chr19:39094502
|
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 | |||||
|
chr19:39094546
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0011a0001c0001t0015a0001c0002t0002others(3): Show | a0001c0001t0011g0166a0001c0001t0011g0167a0001c0001t0011g0168others(63): Show | 66 | 402 | 0.1642 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-3912C>T | ||||||
|
chr19:39098253
|
CAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(18): Show | a0001c0001t0001g0339a0001c0001t0006g0136a0001c0001t0014g0137others(108): Show | 111 | 402 | 0.2761 | -3 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | c.122-181_122-179delAAA | 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 | ||||||
|
chr19:39098908
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(105): Show |
a0001 | a0001c0002a0001c0009a0001c0017others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(11): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(105): Show | 108 | 402 | 0.2687 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 3/12 | c.323-52G>A | ||||||
|
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 | ||||||
|
chr19:39100213
|
G | GC | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(99): Show |
a0001 | a0001c0002a0001c0017a0001c0018 | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(9): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(99): Show | 102 | 402 | 0.2537 | 1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/12 | c.506-9dupC | INFO_REALIGN_3_PRIME | |||||
|
chr19:39101108
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(105): Show |
a0001 | a0001c0002a0001c0009a0001c0017others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(11): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(105): Show | 108 | 402 | 0.2687 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 8/12 | c.916-42G>A | ||||||
|
chr19:39101692
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(106): Show |
a0001 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(12): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(106): Show | 109 | 402 | 0.2711 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+155C>T | ||||||
|
chr19:39102118
|
T | TCACA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(88): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0002others(17): Show | a0001c0001t0001g0353a0001c0001t0001g0398a0001c0001t0015g0199others(88): Show | 91 | 402 | 0.2264 | 4 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+582_1113+583insACAC | 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 | |||||
|
chr19:39102450
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(106): Show |
a0001 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(12): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(106): Show | 109 | 402 | 0.2711 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+913C>T | ||||||
|
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 | TTAC | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0031 | a0001c0002t0002g0115a0001c0002t0002g0121a0001c0002t0002g0122others(8): Show | 11 | 402 | 0.0274 | 3 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1179_1113+1180insACT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr19:39103129
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0005others(15): Show | a0001c0001t0028g0226a0001c0002t0002g0011a0001c0002t0002g0012others(113): Show | 116 | 402 | 0.2886 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1592T>C | ||||||
|
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
|
GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(13): Show | a0001c0001t0001g0378a0001c0001t0001g0398a0001c0001t0011g0183others(92): Show | 95 | 402 | 0.2363 | -3 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1113+1927_1113+1929delTTT | 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 | ||||||
|
chr19:39104606
|
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 | ||||||
|
chr19:39105306
|
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 | ||||||
|
chr19:39106187
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(109): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(14): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(109): Show | 112 | 402 | 0.2786 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | c.1114-760G>A | ||||||
|
chr19:39108859
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(109): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(14): Show | a0001c0002t0002g0011a0001c0002t0002g0012a0001c0002t0002g0114others(109): Show | 112 | 402 | 0.2786 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1252-1194C>T | ||||||
|
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 | ||||||
|
chr19:39109685
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(92): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(15): Show | a0001c0002t0002g0012a0001c0002t0002g0114a0001c0002t0002g0115others(92): Show | 95 | 402 | 0.2363 | -1 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | c.1252-344delA | 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 | 0/0 | c0002 | 1317 | 103 | 2 | 23 | 57 | 5 | 16 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/0 | t0002 | 1590 | 53 | 0 | 14 | 29 | 0 | 10 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/0 | g0122 | 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 | 0/0 | a0001c0002 | 103 | 2 | 23 | 57 | 5 | 16 | 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 | 0/0 | a0001c0002t0002 | 49 | 0 | 14 | 26 | 0 | 9 | 2906 | 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 | a0001c0002t0002g0122 | 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 | -0.5297 | -0.5297 | -0.5297 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39085092 | + | 2 | 0.5870 | 0.5870 | 0.5870 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39085390 | + | 2 | -0.7514 | -0.7514 | -0.7514 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098458 | + | 3 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098658 | + | 3 | -0.9846 | -0.9846 | -0.9846 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098960 | + | 4 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39099142 | + | 4 | -0.9380 | -0.9379 | -0.9380 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100227 | + | 5 | 0.8339 | 0.8339 | 0.8339 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100350 | + | 5 | -0.8303 | -0.8303 | -0.8303 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100580 | + | 6 | 0.9941 | 0.9941 | 0.9941 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100642 | + | 6 | -0.9924 | -0.9924 | -0.9924 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100739 | + | 7 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100853 | + | 7 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100949 | + | 8 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101056 | + | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101150 | + | 9 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101207 | + | 9 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101288 | + | 10 | 0.9956 | 0.9956 | 0.9956 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101355 | + | 10 | -0.9975 | -0.9975 | -0.9975 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101466 | + | 11 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101537 | + | 11 | -0.9962 | -0.9962 | -0.9962 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39106947 | + | 12 | 0.9787 | 0.9787 | 0.9787 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39107084 | + | 12 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39110053 | + | 13 | 0.8459 | 0.8459 | 0.8459 | 0.0000 | donor | a0001c0002t0002g0122 | HG00438.hp2 | HG00438.hp2 | 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 | |
|
chr19:39087643
|
c.121+2253T>G | Resistance to COVID-19 infection (Exposed negative vs positive)others(23): Show | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015a0001c0002t0002a0001c0002t0005others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0036others(177): Show | HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(177): Show |
Better safe than sorry-Whole-genome sequencing ind others(76): Show |
306 resistant cases, up to 770 benign, mild or sev others(13): Show |
ACP7 | rs140656818-? | + | MODIFIER | chr19 | T | G |