| geneid | 8086 |
|---|---|
| ensemblid | ENSG00000094914.14 |
| hgncid | 13666 |
| symbol | AAAS |
| name | aladin WD repeat nucleoporin |
| refseq_nuc | NM_015665.6 |
| refseq_prot | NP_056480.1 |
| ensembl_nuc | ENST00000209873.9 |
| ensembl_prot | ENSP00000209873.4 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 53307460 |
| end | 53321610 |
| strand | - |
| ver | v1.2 |
| region | chr12:53307460-53321610 |
| region5000 | chr12:53302460-53326610 |
| regionname0 | AAAS_chr12_53307460_53321610 |
| regionname5000 | AAAS_chr12_53302460_53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53309237
|
G | A | 0.9333 | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(170): Show | 308 | 330 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 9/16 | c.855C>T | p.Phe285Phe | 1000/1815 | 855/1641 | 285/546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53308587
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(181): Show | 321 | 330 | 0.9727 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 11/15 | c.1088-59A>G | ||||||
|
chr12:53310071
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(164): Show | 297 | 330 | 0.9000 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.690-350A>G | ||||||
|
chr12:53311691
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(154): Show | 283 | 330 | 0.8576 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.690-1970C>G | ||||||
|
chr12:53311919
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(166): Show | 299 | 330 | 0.9061 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.690-2198G>A | ||||||
|
chr12:53312548
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(307): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 310 | 330 | 0.9394 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1750C>T | ||||||
|
chr12:53312565
|
C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(164): Show | 297 | 330 | 0.9000 | 1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1732dupT | ||||||
|
chr12:53312827
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(170): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1471T>G | ||||||
|
chr12:53312829
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(170): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1469G>A | ||||||
|
chr12:53312862
|
AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(122): Show | 228 | 330 | 0.6909 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1435delA | ||||||
|
chr12:53312972
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(163): Show | 295 | 330 | 0.8939 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+1326A>G | ||||||
|
chr12:53313491
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(298): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(168): Show | 301 | 330 | 0.9121 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+807C>T | ||||||
|
chr12:53313653
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(298): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(168): Show | 301 | 330 | 0.9121 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+645C>G | ||||||
|
chr12:53314227
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(173): Show | 313 | 330 | 0.9485 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | c.689+71C>G | ||||||
|
chr12:53315924
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 307 | 330 | 0.9303 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-142C>A | ||||||
|
chr12:53316692
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(176): Show | 316 | 330 | 0.9576 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-910A>G | ||||||
|
chr12:53316764
|
C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(66): Show | 129 | 330 | 0.3909 | 1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-983dupT | ||||||
|
chr12:53317150
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1368A>G | ||||||
|
chr12:53317250
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1468A>G | ||||||
|
chr12:53317479
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1697G>A | ||||||
|
chr12:53317512
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1730C>T | ||||||
|
chr12:53317556
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(161): Show | 295 | 330 | 0.8939 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.252-1775delT | ||||||
|
chr12:53318183
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+2382C>G | ||||||
|
chr12:53318243
|
T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(4): Show | 7 | 330 | 0.0212 | 8 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+2321_251+2322insGCACACAC | ||||||
|
chr12:53318245
|
C | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(114): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(74): Show | 117 | 330 | 0.3546 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+2320G>A | ||||||
|
chr12:53318476
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+2089C>T | ||||||
|
chr12:53319339
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+1226C>T | ||||||
|
chr12:53319585
|
G | GCAGATTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 7 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+979_251+980insTAATCTG | ||||||
|
chr12:53319819
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 275 | 330 | 0.8333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+746T>C | ||||||
|
chr12:53319825
|
AG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 275 | 330 | 0.8333 | -1 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+739delC | ||||||
|
chr12:53320506
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(176): Show | 313 | 330 | 0.9485 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | c.251+59A>C | ||||||
|
chr12:53320712
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.124-20T>C | ||||||
|
chr12:53320725
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.124-33A>C | ||||||
|
chr12:53321209
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | c.123+134G>A |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 1/1 | a0001 | 546 | 322 | 88 | 66 | 118 | 10 | 38 | subcellular location copy fasta | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/1 | c0001 | 1641 | 280 | 67 | 56 | 112 | 8 | 36 | copy fasta | chr12 | 53302460 | 53326610 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 1/1 | t0001 | 175 | 326 | 90 | 66 | 120 | 10 | 38 | copy fasta | chr12 | 53302460 | 53326610 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | g0077 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/1 | a0001c0001 | 280 | 67 | 56 | 112 | 8 | 36 | 1641 | copy fasta | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/1 | a0001c0001t0001 | 279 | 66 | 56 | 112 | 8 | 36 | 1815 | copy fasta | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAAS | 0/0 | a0001c0001t0001g0077 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 53302460 | 53326610 |
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| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 53321343 | - | 1 | -0.3308 | -0.3307 | -0.3308 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53320565 | - | 2 | -0.9878 | -0.9878 | -0.9878 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53320692 | - | 2 | 0.9778 | 0.9778 | 0.9778 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53315727 | - | 3 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53315782 | - | 3 | 0.9917 | 0.9917 | 0.9917 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53315335 | - | 4 | -0.8092 | -0.8092 | -0.8092 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53315426 | - | 4 | 0.7702 | 0.7702 | 0.7702 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53315094 | - | 5 | -0.9855 | -0.9855 | -0.9855 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53315140 | - | 5 | 0.9687 | 0.9687 | 0.9687 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53314751 | - | 6 | -0.4636 | -0.4636 | -0.4636 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53314849 | - | 6 | 0.7243 | 0.7243 | 0.7243 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53314298 | - | 7 | -0.9777 | -0.9777 | -0.9777 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53314441 | - | 7 | 0.9775 | 0.9775 | 0.9775 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53309601 | - | 8 | -0.9874 | -0.9874 | -0.9874 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53309721 | - | 8 | 0.9921 | 0.9921 | 0.9921 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53309157 | - | 9 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53309281 | - | 9 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308960 | - | 10 | -0.8136 | -0.8136 | -0.8136 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53309020 | - | 10 | 0.8945 | 0.8945 | 0.8945 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308725 | - | 11 | -0.8221 | -0.8221 | -0.8221 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308815 | - | 11 | 0.8041 | 0.8041 | 0.8041 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308435 | - | 12 | -0.9838 | -0.9838 | -0.9838 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308528 | - | 12 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308282 | - | 13 | -0.9298 | -0.9298 | -0.9298 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308349 | - | 13 | 0.9531 | 0.9531 | 0.9531 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308052 | - | 14 | -0.9035 | -0.9035 | -0.9035 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53308133 | - | 14 | 0.9552 | 0.9552 | 0.9552 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53307845 | - | 15 | -0.4066 | -0.4066 | -0.4066 | 0.0000 | acceptor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53307929 | - | 15 | 0.3678 | 0.3678 | 0.3678 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 53307713 | - | 16 | 0.2766 | 0.2766 | 0.2766 | 0.0000 | donor | a0001c0001t0001g0077 | HG00639.hp2 | HG00639.hp2 | AAAS | chr12 | 53302460 | 53326610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:53323052
|
c.-1587C>T | Bone mineral density (spine) | a0001a0003 | a0001c0001a0001c0006a0001c0008a0001c0010a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0006t0001a0001c0008t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(104): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 others(197): Show |
A multi-ethnic whole genome sequencing study to id others(43): Show |
1,825 African American females, 26,724 European an others(39): Show |
AAAS | rs10747666-? | - | MODIFIER | chr12 | G | A |