| geneid | 10349 |
|---|---|
| ensemblid | ENSG00000154263.18 |
| hgncid | 30 |
| symbol | ABCA10 |
| name | ATP binding cassette subfamily A member 10 |
| refseq_nuc | NM_001377321.1 |
| refseq_prot | NP_001364250.1 |
| ensembl_nuc | ENST00000690296.1 |
| ensembl_prot | ENSP00000509702.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 69148007 |
| end | 69228824 |
| strand | - |
| ver | v1.2 |
| region | chr17:69148007-69228824 |
| region5000 | chr17:69143007-69233824 |
| regionname0 | ABCA10_chr17_69148007_69228824 |
| regionname5000 | ABCA10_chr17_69143007_69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69149049
|
TGA | T | 0.1207 | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | -2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 38/39 | c.4515_4516delTC | p.Gln1506fs | 5072/6008 | 4515/4632 | 1505/1543 | ||
|
chr17:69153832
|
G | A | 0.1207 | stop_gained others(1): Show |
HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 32/39 | c.3964C>T | p.Arg1322* | 4520/6008 | 3964/4632 | 1322/1543 | ||
|
chr17:69182175
|
A | G | 0.6897 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/39 | c.2747T>C | p.Met916Thr | 3303/6008 | 2747/4632 | 916/1543 | ||
|
chr17:69194395
|
AACAG | A | 0.1207 | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | -4 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 12/39 | c.1331_1334delCTGT | p.Ser444fs | 1890/6008 | 1331/4632 | 444/1543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69153977
|
C | T | 0.1207 | synonymous_variant | LOW | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 32/39 | c.3819G>A | p.Arg1273Arg | 4375/6008 | 3819/4632 | 1273/1543 | ||
|
chr17:69193832
|
T | C | 0.0374 | synonymous_variant | LOW | HG01975.hp2 HG02004.hp2 HG02015.hp2 others(10): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0011 | a0004c0006t0003g0033a0004c0006t0003g0034a0004c0006t0003g0044others(10): Show | 13 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 13/39 | c.1503A>G | p.Pro501Pro | 2059/6008 | 1503/4632 | 501/1543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69148056
|
G | A | 0.7069 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(243): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0015others(26): Show | a0001c0001t0006a0001c0001t0017a0002c0002t0001others(35): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(238): Show | 246 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*771C>T | 771 | |||||
|
chr17:69148254
|
A | G | 0.1379 | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(45): Show |
a0004a0008 | a0004c0004a0004c0006a0008c0009 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(2): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(43): Show | 48 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*573T>C | 573 | |||||
|
chr17:69148435
|
C | T | 0.1236 | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(40): Show |
a0004a0009 | a0004c0004a0004c0006a0009c0022 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(2): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(39): Show | 43 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*392G>A | 392 | |||||
|
chr17:69148487
|
C | A | 0.6695 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*340G>T | 340 | |||||
|
chr17:69148543
|
T | A | 0.6695 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*284A>T | 284 | |||||
|
chr17:69228706
|
G | T | 0.9368 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(323): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0034a0001c0035others(33): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(42): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(317): Show | 326 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1/39 | c.-438C>A | 3348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | a0004 | 459 | 42 | 4 | 15 | 17 | 1 | 5 | subcellular location copy fasta | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | c0006 | 4626 | 13 | 0 | 2 | 11 | 0 | 0 | copy fasta | chr17 | 69143007 | 69233824 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | t0003 | 1377 | 40 | 4 | 14 | 16 | 1 | 5 | copy fasta | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | a0004c0006 | 13 | 0 | 2 | 11 | 0 | 0 | 4626 | copy fasta | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | a0004c0006t0003 | 12 | 0 | 2 | 10 | 0 | 0 | 6002 | copy fasta | chr17 | 69143007 | 69233824 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69228581 | - | 1 | -0.7653 | -0.7613 | -0.7475 | 0.0178 | acceptor | a0004c0006t0003 | NA18965.hp1 | NA18974.hp2 NA19086.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69227145 | - | 2 | -0.9782 | -0.9642 | -0.9530 | 0.0251 | acceptor | a0004c0006t0003 | NA18945.hp2 NA19068.hp1 |
NA18985.hp2 NA18993.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69227285 | - | 2 | 0.9865 | 0.9848 | 0.9831 | 0.0034 | donor | a0004c0006t0003 | NA18965.hp1 | NA18985.hp2 NA18993.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69225325 | - | 3 | -0.9273 | -0.9235 | -0.9045 | 0.0229 | acceptor | a0004c0006t0003 | NA19000.hp2 NA19074.hp1 |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69225529 | - | 3 | 0.5506 | 0.4905 | 0.4690 | 0.0817 | donor | a0004c0006t0003 | NA18612.hp2 | NA18965.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69222533 | - | 4 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18993.hp2 others(4): Show |
HG02004.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69222697 | - | 4 | 0.9895 | 0.9893 | 0.9890 | 0.0006 | donor | a0004c0006t0003 | HG01975.hp2 | HG02004.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69221792 | - | 5 | -0.2192 | -0.2192 | -0.2138 | 0.0054 | acceptor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18993.hp2 others(4): Show |
NA18612.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69221895 | - | 5 | 0.2287 | 0.2287 | 0.2265 | 0.0022 | donor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18993.hp2 others(4): Show |
NA18612.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69219545 | - | 6 | -0.9390 | -0.9390 | -0.9390 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 |
NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18993.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69219771 | - | 6 | 0.7113 | 0.7113 | 0.7109 | 0.0003 | donor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18993.hp2 others(4): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69216217 | - | 7 | -0.2442 | -0.2442 | -0.2442 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216358 | - | 7 | 0.3909 | 0.3909 | 0.3909 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69215815 | - | 8 | -0.6943 | -0.6943 | -0.6943 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216000 | - | 8 | 0.7563 | 0.7563 | 0.7563 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69214704 | - | 9 | -0.6932 | -0.6917 | -0.6910 | 0.0022 | acceptor | a0004c0006t0003 | NA18965.hp1 NA19068.hp1 |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69214851 | - | 9 | 0.5987 | 0.5985 | 0.5985 | 0.0002 | donor | a0004c0006t0003 | HG01975.hp2 | HG02004.hp2 NA18993.hp2 NA19000.hp2 NA19074.hp1 NA19086.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201500 | - | 10 | -0.8513 | -0.8513 | -0.8513 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201668 | - | 10 | 0.5682 | 0.5682 | 0.5682 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69197064 | - | 11 | -0.9801 | -0.9798 | -0.9794 | 0.0008 | acceptor | a0004c0006t0003 | HG01975.hp2 | NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69197122 | - | 11 | 0.9949 | 0.9949 | 0.9947 | 0.0002 | donor | a0004c0006t0003 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69194385 | - | 12 | -0.9896 | -0.9896 | -0.9892 | 0.0003 | acceptor | a0004c0006t0003 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69194495 | - | 12 | 0.9967 | 0.9967 | 0.9966 | 0.0001 | donor | a0004c0006t0003 | HG01975.hp2 | NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193814 | - | 13 | -0.9276 | -0.9276 | -0.9243 | 0.0033 | acceptor | a0004c0006t0003 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193989 | - | 13 | 0.9513 | 0.9513 | 0.9482 | 0.0032 | donor | a0004c0006t0003 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193493 | - | 14 | -0.9525 | -0.9512 | -0.9512 | 0.0012 | acceptor | a0004c0006t0003 | NA18993.hp2 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193612 | - | 14 | 0.9853 | 0.9850 | 0.9848 | 0.0005 | donor | a0004c0006t0003 | NA18993.hp2 | HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193110 | - | 15 | -0.9649 | -0.9649 | -0.9649 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 | NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193248 | - | 15 | 0.9907 | 0.9906 | 0.9906 | 0.0001 | donor | a0004c0006t0003 | HG01975.hp2 | NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192563 | - | 16 | -0.9072 | -0.9072 | -0.9069 | 0.0002 | acceptor | a0004c0006t0003 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192653 | - | 16 | 0.9603 | 0.9603 | 0.9602 | 0.0001 | donor | a0004c0006t0003 | HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 others(5): Show |
NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69191176 | - | 17 | -0.9478 | -0.9478 | -0.9478 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69191315 | - | 17 | 0.9572 | 0.9572 | 0.9572 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190358 | - | 18 | -0.9945 | -0.9945 | -0.9945 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190477 | - | 18 | 0.9868 | 0.9868 | 0.9868 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69187681 | - | 19 | -0.9757 | -0.9757 | -0.9755 | 0.0001 | acceptor | a0004c0006t0003 | NA18612.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19000.hp2 others(2): Show |
HG02004.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69187879 | - | 19 | 0.9891 | 0.9888 | 0.9887 | 0.0004 | donor | a0004c0006t0003 | HG02004.hp2 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185477 | - | 20 | -0.9298 | -0.9257 | -0.9257 | 0.0041 | acceptor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
NA18612.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19074.hp1 others(1): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185643 | - | 20 | 0.7890 | 0.7789 | 0.7789 | 0.0101 | donor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
NA18612.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19074.hp1 others(1): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182675 | - | 21 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0004c0006t0003 | HG02004.hp2 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182808 | - | 21 | 0.9959 | 0.9957 | 0.9957 | 0.0001 | donor | a0004c0006t0003 | HG02004.hp2 | HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69182153 | - | 22 | -0.9476 | -0.9473 | -0.9473 | 0.0004 | acceptor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
NA18612.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19074.hp1 others(1): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182290 | - | 22 | 0.9855 | 0.9855 | 0.9854 | 0.0001 | donor | a0004c0006t0003 | HG02004.hp2 | NA19000.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69175406 | - | 23 | -0.8054 | -0.8054 | -0.7852 | 0.0202 | acceptor | a0004c0006t0003 | HG02004.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 others(5): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69175513 | - | 23 | 0.8103 | 0.7772 | 0.7742 | 0.0361 | donor | a0004c0006t0003 | HG01975.hp2 | NA18612.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174607 | - | 24 | -0.4042 | -0.4039 | -0.4039 | 0.0004 | acceptor | a0004c0006t0003 | HG01975.hp2 | HG02004.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 others(5): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174777 | - | 24 | 0.3970 | 0.3970 | 0.3936 | 0.0034 | donor | a0004c0006t0003 | NA18612.hp2 | HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174281 | - | 25 | -0.5830 | -0.5829 | -0.5820 | 0.0010 | acceptor | a0004c0006t0003 | NA18612.hp2 | HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174394 | - | 25 | 0.4755 | 0.4752 | 0.4750 | 0.0005 | donor | a0004c0006t0003 | NA18612.hp2 | HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164964 | - | 26 | -0.3306 | -0.3306 | -0.3271 | 0.0035 | acceptor | a0004c0006t0003 | NA19074.hp1 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69165083 | - | 26 | 0.2760 | 0.2760 | 0.2748 | 0.0012 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18974.hp2 NA18985.hp2 others(3): Show |
NA18945.hp2 NA18965.hp1 NA19068.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164074 | - | 27 | -0.3821 | -0.3804 | -0.3804 | 0.0017 | acceptor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18974.hp2 NA18985.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164154 | - | 27 | 0.4933 | 0.4889 | 0.4889 | 0.0044 | donor | a0004c0006t0003 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
HG01975.hp2 HG02004.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 others(2): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69156832 | - | 28 | -0.7859 | -0.7859 | -0.7828 | 0.0031 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18945.hp2 NA18965.hp1 NA18985.hp2 others(5): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69156923 | - | 28 | 0.8666 | 0.8651 | 0.8640 | 0.0026 | donor | a0004c0006t0003 | NA18974.hp2 | NA18612.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155805 | - | 29 | -0.9980 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155925 | - | 29 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155019 | - | 30 | -0.9971 | -0.9971 | -0.9951 | 0.0021 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155136 | - | 30 | 0.9968 | 0.9966 | 0.9966 | 0.0002 | donor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154235 | - | 31 | -0.9448 | -0.9376 | -0.9376 | 0.0072 | acceptor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154326 | - | 31 | 0.9397 | 0.9397 | 0.9324 | 0.0074 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153831 | - | 32 | -0.9637 | -0.9617 | -0.9617 | 0.0021 | acceptor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154009 | - | 32 | 0.9501 | 0.9501 | 0.9348 | 0.0153 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153471 | - | 33 | -0.7650 | -0.7650 | -0.7640 | 0.0010 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153546 | - | 33 | 0.9887 | 0.9886 | 0.9886 | 0.0001 | donor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153305 | - | 34 | -0.9938 | -0.9937 | -0.9937 | 0.0001 | acceptor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153399 | - | 34 | 0.9141 | 0.9141 | 0.9133 | 0.0007 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152362 | - | 35 | -0.9626 | -0.9626 | -0.9623 | 0.0003 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152481 | - | 35 | 0.9621 | 0.9621 | 0.9620 | 0.0001 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152043 | - | 36 | -0.7431 | -0.7431 | -0.7423 | 0.0008 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA18974.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152183 | - | 36 | 0.8331 | 0.8287 | 0.8287 | 0.0044 | donor | a0004c0006t0003 | NA18974.hp2 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149984 | - | 37 | -0.9643 | -0.9643 | -0.9643 | 0.0000 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69150063 | - | 37 | 0.9785 | 0.9785 | 0.9785 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(7): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149033 | - | 38 | -0.9408 | -0.9408 | -0.9401 | 0.0006 | acceptor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA19074.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69149088 | - | 38 | 0.9591 | 0.9591 | 0.9589 | 0.0002 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA19074.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69148925 | - | 39 | 0.6257 | 0.6257 | 0.6257 | 0.0000 | donor | a0004c0006t0003 | HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
NA19074.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69149049:splice 69149049:variant goto | c.4515_4516delTCp.Gln1506fs | 402329 | Benign | ABCA10:10349 | SO:0001589 frameshift_variant |
MedGen:CN169374 | - | 1 | 2 | 4 | 41 | a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003a0004c0006t0011 | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074a0004c0004t0003g0105a0004c0004t0003g0141others(36): Show | HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 others(37): Show |
HIGH | chr17 | TGA | T | TogoVar |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69228706
|
c.-438C>A | Paclitaxel disposition in epithelial ovarian cancerothers(16): Show | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013a0001c0001t0017a0001c0001t0018others(40): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
Genome-wide association study of paclitaxel and ca others(62): Show |
66 European ancestry cases, 14 Asian ancestry case others(2): Show |
ABCA10 | ABCA10 | rs9302891-? | - | MODIFIER | chr17 | G | T |
|
chr17:69192404
|
c.1871+159C>G |
Brain amyloid deposition (PET imaging)0. others(4): Show |
a0004a0005a0006a0007a0008others(3): Show | a0004c0004a0004c0006a0005c0005a0006c0007a0006c0016others(5): Show | a0004c0004t0003a0004c0004t0011a0004c0006t0003a0004c0006t0011a0005c0005t0004others(10): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074a0004c0004t0003g0105a0004c0004t0003g0141others(79): Show | HG00609.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 others(82): Show |
Association Between Common Variants in RBFOX1, an others(86): Show |
4,120 Europea ancestry individuals, 89 African Ame others(44): Show |
NR | ABCA10 | rs8068468-C | - | MODIFIER | chr17 | G | C |
|
chr17:69192435
|
c.1871+128T>C | Corneal hysteresis0.119 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(43): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
Genome-wide association study of corneal biomechan others(105): Show |
106,041 European ancestry individuals/9,029 Europe others(23): Show |
ABCA10 | ABCA10 | rs8070232-A | - | MODIFIER | chr17 | A | G |
|
chr17:69192435
|
c.1871+128T>C | Corneal resistance factor0.142 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(43): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
Genome-wide association study of corneal biomechan others(105): Show |
106,030 European ancestry individuals/9,029 Europe others(23): Show |
ABCA10 | ABCA10 | rs8070232-A | - | MODIFIER | chr17 | A | G |
|
chr17:69154035
|
c.3787-26A>G | Hemoglobin concentration0.03001 | a0001a0002a0003a0004a0005others(21): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(32): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(46): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(331): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(337): Show |
Common and Ethnic-Specific Genetic Determinants of others(145): Show |
52,141 European ancestry females/89,584 European a others(15): Show |
ABCA10 | rs2886232-T | - | MODIFIER | chr17 | T | C | |
|
chr17:69192435
|
c.1871+128T>C | Height0.0081 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(43): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABCA10 | rs8070232-A | - | MODIFIER | chr17 | A | G |