| geneid | 23 |
|---|---|
| ensemblid | ENSG00000204574.14 |
| hgncid | 70 |
| symbol | ABCF1 |
| name | ATP binding cassette subfamily F member 1 |
| refseq_nuc | NM_001025091.2 |
| refseq_prot | NP_001020262.1 |
| ensembl_nuc | ENST00000326195.13 |
| ensembl_prot | ENSP00000313603.8 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 30571442 |
| end | 30591522 |
| strand | + |
| ver | v1.2 |
| region | chr6:30571442-30591522 |
| region5000 | chr6:30566442-30596522 |
| regionname0 | ABCF1_chr6_30571442_30591522 |
| regionname5000 | ABCF1_chr6_30566442_30596522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:30590700
|
G | GA | 0.7036 | stop_retained_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(289): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0004a0004c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(181): Show | 292 | 415 | 1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 25/25 | c.2538dupA | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:30591257
|
T | C | 0.0530 | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(14): Show | 22 | 415 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 25/25 | c.*556T>C | 556 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:30571661
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(319): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 322 | 415 | 0.7759 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.73+101C>G | ||||||
|
chr6:30572165
|
TGAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(11): Show | 19 | 415 | 0.0458 | -3 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.73+608_73+610delAGA | INFO_REALIGN_3_PRIME | |||||
|
chr6:30573460
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(317): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(199): Show | 320 | 415 | 0.7711 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.73+1900G>T | ||||||
|
chr6:30574075
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(242): Show | 409 | 415 | 0.9855 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.73+2515G>A | ||||||
|
chr6:30574149
|
G | GT | intron_variant | MODIFIER | HG01175.hp2 HG01358.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0215others(8): Show | 11 | 415 | 0.0265 | 1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.73+2601dupT | INFO_REALIGN_3_PRIME | |||||
|
chr6:30574833
|
A | T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(14): Show | 22 | 415 | 0.0530 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-2576A>T | ||||||
|
chr6:30575094
|
C | CAG | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(14): Show | 22 | 415 | 0.0530 | 2 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-2314_74-2313dupAG | INFO_REALIGN_3_PRIME | |||||
|
chr6:30575222
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(310): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(197): Show | 313 | 415 | 0.7542 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-2187G>A | ||||||
|
chr6:30575369
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(299): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(190): Show | 302 | 415 | 0.7277 | -1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-2027delT | INFO_REALIGN_3_PRIME | |||||
|
chr6:30575665
|
C | T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(11): Show | 19 | 415 | 0.0458 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-1744C>T | ||||||
|
chr6:30576276
|
C | CT | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0040a0001c0001t0001g0111others(29): Show | 48 | 415 | 0.1157 | 1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-1104dupT | INFO_REALIGN_3_PRIME | |||||
|
chr6:30576684
|
G | A | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(14): Show | 22 | 415 | 0.0530 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-725G>A | ||||||
|
chr6:30577164
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(310): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(197): Show | 313 | 415 | 0.7542 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | c.74-245G>A | ||||||
|
chr6:30579455
|
AT | A | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(10): Show | 18 | 415 | 0.0434 | -1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 6/24 | c.490-455delT | INFO_REALIGN_3_PRIME | |||||
|
chr6:30579558
|
A | G | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(11): Show | 19 | 415 | 0.0458 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 6/24 | c.490-373A>G | ||||||
|
chr6:30579728
|
T | C | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(11): Show | 19 | 415 | 0.0458 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 6/24 | c.490-203T>C | ||||||
|
chr6:30580031
|
G | A | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229a0001c0002t0002g0231a0001c0002t0002g0234others(3): Show | 6 | 415 | 0.0145 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 7/24 | c.564+26G>A | ||||||
|
chr6:30580360
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(298): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0003c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(184): Show | 301 | 415 | 0.7253 | -1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 7/24 | c.565-32delA | INFO_REALIGN_3_PRIME | |||||
|
chr6:30580899
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(310): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(197): Show | 313 | 415 | 0.7542 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 8/24 | c.678+380T>C | ||||||
|
chr6:30581398
|
C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01175.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0010a0001c0001t0001g0105a0001c0001t0001g0106others(16): Show | 24 | 415 | 0.0578 | 2 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 8/24 | c.678+901_678+902dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:30584725
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(320): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(202): Show | 323 | 415 | 0.7783 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 14/24 | c.1391+159A>C | ||||||
|
chr6:30584833
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(310): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(197): Show | 313 | 415 | 0.7542 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 14/24 | c.1391+267C>G | ||||||
|
chr6:30586092
|
C | T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(14): Show | 22 | 415 | 0.0530 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 17/24 | c.1714-42C>T | ||||||
|
chr6:30586094
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(195): Show | 311 | 415 | 0.7494 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 17/24 | c.1714-40C>T | ||||||
|
chr6:30587249
|
CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00642.hp1 others(79): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0020others(48): Show | 82 | 415 | 0.1976 | -1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | c.2031+555delA | INFO_REALIGN_3_PRIME | |||||
|
chr6:30587285
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(195): Show | 311 | 415 | 0.7494 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | c.2031+574C>T | ||||||
|
chr6:30587634
|
T | TA | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0144a0001c0001t0001g0150a0001c0001t0001g0177others(14): Show | 22 | 415 | 0.0530 | 1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | c.2031+935dupA | INFO_REALIGN_3_PRIME | |||||
|
chr6:30587846
|
C | CA | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp1 HG02027.hp1 others(25): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0040a0001c0001t0001g0090a0001c0001t0001g0109others(24): Show | 28 | 415 | 0.0675 | 1 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | c.2031+1151dupA | INFO_REALIGN_3_PRIME | |||||
|
chr6:30588307
|
C | A | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(11): Show | 19 | 415 | 0.0458 | 0 | ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | c.2032-1381C>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/1 | a0001 | 845 | 399 | 81 | 77 | 179 | 14 | 47 | subcellular location copy fasta | chr6 | 30566442 | 30596522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/0 | c0002 | 2538 | 114 | 18 | 30 | 57 | 5 | 4 | copy fasta | chr6 | 30566442 | 30596522 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/0 | t0002 | 868 | 22 | 7 | 2 | 13 | 0 | 0 | copy fasta | chr6 | 30566442 | 30596522 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/0 | g0240 | 1 | 0 | 1 | 0 | 0 | 0 | chr6 | 30566442 | 30596522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/0 | a0001c0002 | 114 | 18 | 30 | 57 | 5 | 4 | 2538 | copy fasta | chr6 | 30566442 | 30596522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/0 | a0001c0002t0002 | 19 | 5 | 2 | 12 | 0 | 0 | 3405 | copy fasta | chr6 | 30566442 | 30596522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCF1 | 0/0 | a0001c0002t0002g0240 | 1 | 0 | 1 | 0 | 0 | 0 | chr6 | 30566442 | 30596522 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 30571560 | + | 1 | -0.9321 | -0.9321 | -0.9321 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30577409 | + | 2 | 0.9502 | 0.9502 | 0.9502 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30577455 | + | 2 | -0.9820 | -0.9820 | -0.9820 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30577818 | + | 3 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30577913 | + | 3 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30578076 | + | 4 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30578202 | + | 4 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30578348 | + | 5 | 0.9835 | 0.9835 | 0.9835 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30578385 | + | 5 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30578470 | + | 6 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30578577 | + | 6 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30579931 | + | 7 | 0.9274 | 0.9274 | 0.9274 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30580005 | + | 7 | -0.8837 | -0.8837 | -0.8837 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30580406 | + | 8 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30580519 | + | 8 | -0.9997 | -0.9997 | -0.9997 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30582394 | + | 9 | 0.9878 | 0.9878 | 0.9878 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30582507 | + | 9 | -0.9907 | -0.9907 | -0.9907 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30583066 | + | 10 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30583188 | + | 10 | -0.9998 | -0.9998 | -0.9998 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30583608 | + | 11 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30583708 | + | 11 | -0.9786 | -0.9786 | -0.9786 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30583805 | + | 12 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30583890 | + | 12 | -0.9720 | -0.9719 | -0.9720 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30584192 | + | 13 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30584331 | + | 13 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30584418 | + | 14 | 0.9980 | 0.9980 | 0.9980 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30584566 | + | 14 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30585260 | + | 15 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30585343 | + | 15 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30585558 | + | 16 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30585682 | + | 16 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30585879 | + | 17 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30585991 | + | 17 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30586134 | + | 18 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30586305 | + | 18 | -0.9819 | -0.9819 | -0.9819 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30586474 | + | 19 | 0.9988 | 0.9988 | 0.9988 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30586548 | + | 19 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30586641 | + | 20 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30586711 | + | 20 | -0.9920 | -0.9920 | -0.9920 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30589688 | + | 21 | 0.9912 | 0.9912 | 0.9912 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30589720 | + | 21 | -0.9922 | -0.9922 | -0.9922 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30589806 | + | 22 | 0.9990 | 0.9990 | 0.9990 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30589974 | + | 22 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30590149 | + | 23 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30590213 | + | 23 | -0.9993 | -0.9992 | -0.9993 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30590306 | + | 24 | 0.9770 | 0.9770 | 0.9770 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30590378 | + | 24 | -0.9869 | -0.9869 | -0.9869 | 0.0000 | acceptor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 30590535 | + | 25 | 0.9628 | 0.9627 | 0.9628 | 0.0000 | donor | a0001c0002t0002g0240 | HG01175.hp2 | HG01175.hp2 | ABCF1 | chr6 | 30566442 | 30596522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:30569829
|
c.-1659C>G | Graves' disease1.43 | a0001a0002a0003a0004a0006others(5): Show | a0001c0001a0001c0002a0002c0007a0002c0013a0003c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0002t0002others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(191): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 others(301): Show |
Identification of independent risk loci for Graves others(52): Show |
1,119 Japanese ancestry cases, 2,718 Japanese ance others(75): Show |
MHC | PRR3 - ABCF1 | rs3132613-C | + | MODIFIER | chr6 | C | G |
|
chr6:30571428
|
c.-60C>T | Mild influenza (H1N1) infection5.963 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229a0001c0002t0002g0230a0001c0002t0002g0231others(9): Show | HG00741.hp2 HG01175.hp2 HG01891.hp2 HG02572.hp1 HG02622.hp1 others(14): Show |
No Major Host Genetic Risk Factor Contributed to A others(30): Show |
107 European ancestry mild cases, 549 European anc others(26): Show |
GCN20, ABCF1 | ABCF1 | rs4148247-? | + | MODIFIER | chr6 | C | T |
|
chr6:30574075
|
c.73+2515G>A | Hemoglobin concentration0.0425 | a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003a0002c0007a0002c0013others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0002t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(240): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(404): Show |
Common and Ethnic-Specific Genetic Determinants of others(145): Show |
52,141 European ancestry females/89,584 European a others(15): Show |
ABCF1 | rs3132611-G | + | MODIFIER | chr6 | G | A | |
|
chr6:30574075
|
c.73+2515G>A | GZMH/KLRD1 protein level ratio0.266874 | a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003a0002c0007a0002c0013others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0002t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(240): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(404): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | ABCF1 | rs3132611-? | + | MODIFIER | chr6 | G | A |