| geneid | 28971 |
|---|---|
| ensemblid | ENSG00000087884.16 |
| hgncid | 30205 |
| symbol | AAMDC |
| name | adipogenesis associated Mth938 domain containing |
| refseq_nuc | NM_024684.4 |
| refseq_prot | NP_078960.1 |
| ensembl_nuc | ENST00000393427.7 |
| ensembl_prot | ENSP00000377078.2 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 77821144 |
| end | 77872352 |
| strand | + |
| ver | v1.2 |
| region | chr11:77821144-77872352 |
| region5000 | chr11:77816144-77877352 |
| regionname0 | AAMDC_chr11_77821144_77872352 |
| regionname5000 | AAMDC_chr11_77816144_77877352 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:77822414
|
C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0094others(123): Show | 128 | 382 | 0.3351 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+1194dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77823214
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(244): Show | 255 | 382 | 0.6675 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+1993dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77823398
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(297): Show | 308 | 382 | 0.8063 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2157G>A | ||||||
|
chr11:77823621
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0094others(140): Show | 149 | 382 | 0.3901 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2401dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77825217
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(301): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(293): Show | 304 | 382 | 0.7958 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+3976T>C | ||||||
|
chr11:77827904
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+6663G>A | ||||||
|
chr11:77830987
|
CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(104): Show | 109 | 382 | 0.2853 | -2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+9768_-19+9769delAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77832330
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(290): Show | 299 | 382 | 0.7827 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-10136delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77832951
|
ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(39): Show | 43 | 382 | 0.1126 | -10 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9490_-18-9481delGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77832993
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(244): Show | 253 | 382 | 0.6623 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9486G>A | ||||||
|
chr11:77832995
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(285): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(279): Show | 288 | 382 | 0.7539 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9484G>A | ||||||
|
chr11:77832997
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9482G>A | ||||||
|
chr11:77833006
|
TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(136): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(133): Show | 139 | 382 | 0.3639 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9472delA | ||||||
|
chr11:77833009
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(245): Show | 253 | 382 | 0.6623 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9470A>T | ||||||
|
chr11:77834318
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(128): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(126): Show | 131 | 382 | 0.3429 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-8161A>T | ||||||
|
chr11:77834441
|
G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(132): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(130): Show | 135 | 382 | 0.3534 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-8017dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77834762
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-7717A>T | ||||||
|
chr11:77840097
|
AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(286): Show | 295 | 382 | 0.7723 | -2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-2360_-18-2359delCA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77841488
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(108): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(106): Show | 111 | 382 | 0.2906 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-991A>G | ||||||
|
chr11:77843528
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(368): Show | 381 | 382 | 0.9974 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+900G>A | ||||||
|
chr11:77844310
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+1682A>G | ||||||
|
chr11:77844778
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(109): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(107): Show | 112 | 382 | 0.2932 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+2150C>T | ||||||
|
chr11:77847965
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(129): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0002c0004t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(127): Show | 132 | 382 | 0.3456 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+5337G>A | ||||||
|
chr11:77849277
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(129): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0002c0004t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(127): Show | 132 | 382 | 0.3456 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+6649G>A | ||||||
|
chr11:77850785
|
TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(217): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(213): Show | 220 | 382 | 0.5759 | -6 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+8173_132+8178delCACACA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77850953
|
C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(123): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(121): Show | 126 | 382 | 0.3298 | 2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+8344_132+8345dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77852224
|
C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG00741.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0005a0001c0001t0001g0095a0001c0001t0001g0097others(46): Show | 50 | 382 | 0.1309 | 16 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+9598_132+9613dupAAAAAAAAAAAAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77852741
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(291): Show | 300 | 382 | 0.7853 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+10113A>T | ||||||
|
chr11:77853993
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(204): Show | 213 | 382 | 0.5576 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+11380dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77854017
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(368): Show | 381 | 382 | 0.9974 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+11389C>G | ||||||
|
chr11:77855720
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(322): Show | 334 | 382 | 0.8744 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+13109dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77856164
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(130): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(128): Show | 133 | 382 | 0.3482 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+13536C>G | ||||||
|
chr11:77858194
|
AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(177): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(173): Show | 180 | 382 | 0.4712 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11510delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77858302
|
C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0100others(74): Show | 78 | 382 | 0.2042 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11395dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77862161
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(185): Show | 192 | 382 | 0.5026 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-7561G>A | ||||||
|
chr11:77864619
|
A | G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 382 | 0.0026 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-5103A>G | ||||||
|
chr11:77864931
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-4791T>C | ||||||
|
chr11:77866450
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-3272A>T | ||||||
|
chr11:77866800
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(108): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(106): Show | 111 | 382 | 0.2906 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-2922A>G | ||||||
|
chr11:77870199
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(129): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(127): Show | 132 | 382 | 0.3456 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | c.228+382A>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | a0001 | 122 | 312 | 73 | 53 | 135 | 15 | 34 | subcellular location copy fasta | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | c0001 | 369 | 215 | 34 | 35 | 114 | 11 | 19 | copy fasta | chr11 | 77816144 | 77877352 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | t0001 | 154 | 305 | 64 | 47 | 161 | 12 | 19 | copy fasta | chr11 | 77816144 | 77877352 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | g0129 | 1 | 0 | 1 | 0 | 0 | 0 | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | a0001c0001 | 215 | 34 | 35 | 114 | 11 | 19 | 369 | copy fasta | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | a0001c0001t0001 | 215 | 34 | 35 | 114 | 11 | 19 | 522 | copy fasta | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | a0001c0001t0001g0129 | 1 | 0 | 1 | 0 | 0 | 0 | chr11 | 77816144 | 77877352 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 77821241 | + | 1 | -0.5093 | -0.5093 | -0.5093 | 0.0000 | acceptor | a0001c0001t0001g0129 | HG01109.hp1 | HG01109.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77842479 | + | 2 | 0.9917 | 0.9917 | 0.9917 | 0.0000 | donor | a0001c0001t0001g0129 | HG01109.hp1 | HG01109.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77842628 | + | 2 | -0.9936 | -0.9936 | -0.9936 | 0.0000 | acceptor | a0001c0001t0001g0129 | HG01109.hp1 | HG01109.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77869722 | + | 3 | 0.9720 | 0.9720 | 0.9720 | 0.0000 | donor | a0001c0001t0001g0129 | HG01109.hp1 | HG01109.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77869817 | + | 3 | -0.9722 | -0.9722 | -0.9722 | 0.0000 | acceptor | a0001c0001t0001g0129 | HG01109.hp1 | HG01109.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77872175 | + | 4 | 0.8790 | 0.8790 | 0.8790 | 0.0000 | donor | a0001c0001t0001g0129 | HG01109.hp1 | HG01109.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
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ahapid ahapid_count
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chapid chapid count
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thapid thapid_count
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ghapid ghapid_count
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AHAPIDS ahapids
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ACHAPIDS achapids
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ACTHAPIDS acthapids
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ACTGHAPIDS actghapids
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haplotypeids haplotypeids
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impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
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ACHAPIDS achapids
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ACTHAPIDS acthapids
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ACTGHAPIDS actghapids
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haplotypeids haplotypeids
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study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
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impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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chr11:77820844
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c.-416C>T | Left-handedness1.0237926 | a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(124): Show | HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 others(126): Show |
Genome-wide association study identifies 48 common others(45): Show |
1,766,671 European ancestry individuals/ | RSF1 | RSF1 | rs11820337-T | + | MODIFIER | chr11 | C | T |
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chr11:77866800
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c.133-2922A>G | Height0.0157 | a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(104): Show | HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 others(106): Show |
A saturated map of common genetic variants associa others(22): Show |
455,180 Hispanic or Latin American individuals/ | AAMDC | rs7119332-G | + | MODIFIER | chr11 | A | G |