| geneid | 2046 |
|---|---|
| ensemblid | ENSG00000070886.12 |
| hgncid | 3391 |
| symbol | EPHA8 |
| name | EPH receptor A8 |
| refseq_nuc | NM_020526.5 |
| refseq_prot | NP_065387.1 |
| ensembl_nuc | ENST00000166244.8 |
| ensembl_prot | ENSP00000166244.3 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 22563489 |
| end | 22603595 |
| strand | + |
| ver | v1.2 |
| region | chr1:22563489-22603595 |
| region5000 | chr1:22558489-22608595 |
| regionname0 | EPHA8_chr1_22563489_22603595 |
| regionname5000 | EPHA8_chr1_22558489_22608595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563617
|
CGCCCG | C | 0.4269 | start_retained_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(143): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(27): Show | a0000c0007t0010a0001c0001t0002a0001c0001t0007others(54): Show | a0000c0007t0010g0158a0001c0001t0002g0011a0001c0001t0002g0070others(135): Show | 146 | 342 | -5 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/17 | c.-5_-1delCGGCC | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563582
|
A | C | 0.4298 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(144): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(27): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(55): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0011others(136): Show | 147 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/17 | c.-54A>C | 54 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22564916
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(175): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(31): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(73): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(165): Show | 178 | 342 | 0.5205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+1187T>C | ||||||
|
chr1:22565472
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(98): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(295): Show | 326 | 342 | 0.9532 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+1743C>T | ||||||
|
chr1:22568009
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0204a0001c0001t0001g0210others(18): Show | 27 | 342 | 0.0790 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1280G>A | ||||||
|
chr1:22573224
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(38): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0204a0001c0001t0001g0210others(31): Show | 41 | 342 | 0.1199 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-2993C>T | ||||||
|
chr1:22577990
|
C | CATGTGTG others(1292): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(117): Show |
a0000a0001a0002others(1): Show | a0000c0007a0001c0001a0001c0002others(7): Show | a0000c0007t0001a0000c0007t0003a0001c0001t0001others(18): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0003g0197others(102): Show | 120 | 342 | 0.3509 | 1299 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1114_823+1115insGTGCGTGTGTATGTGTGCATGTGTGCGTGAGTGTATGTATGCATGTGTGTGCATGTGCGTAAGTATGTGCATGTGTGTGCATGTGTGCGTGAGTGTATGTGTATGTATGCGTGTGTGTGCATGTGTGCGTGAGTATGTGCATTGAGTGCATGCACATGTGTGCATGAGTATGTATGCGTGTATTCATGTGTGTGCATGTGCGTGAGTGTATGCATGTGTGCATGTATGCGTATGTATGCATGCGTGTGCATGTGTGTGACTATGTATGCATGTGTGTATGTGCATGTGTGTGAGCGTATGTATGCATGTGTGTGCCTGTGTGCGAGTGTACGCATATGTGCGCATGTGTGCGTGAATGTGCATGTGTGCATGTGTGCATTTTTGTATGCATGTGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGAGTGTATATGTGCATGTGTACGTGTGCATGTGTGCGTGGGTGTATGCATGTGCGTGTGCATGAGTGTATGTGTGCGTTTGTGTGCGTGTGCGTGAGTGTACCAATGTGTGTGCATGAGTGTGTGCATATGTGTGCATGAGTGTATGTGTATGTGCATCTGTGCAGTTGTGTGCATCTGCGTGAGTATGTGCATGTGTGCGTGAGTGTATGTATGCATGTCTATGTATACGTGTGCATGTGTGTATGTGTGCGTGTGTGCATATGTGCGTGAGTGTGCATGTGTGCATGTGTGCATGAGTGTATGTATGCATGTATGTGTGTGCCTGTGTGCATGTGTATGTGTGCCTGTGTGTGTGCCTGTGTGCATGTGCGTGAGTGTATGTGCGTGCGTGTGTGTGTGCAATGTGCGTGTGCATGTGTGTGAGTGTATGCATGTGTGCGTGCACATGTGTGCGAGTGTATGTGTGCATGTGTGCATGAGTGTTCATGTGTGTGCATGTGCATGAGTGTATATATGCGTGAGTGTATGCATGTGTGCGTGTGTGCATGTATGTGCATGTGTGCGTGAGTGTACGCATGTGTGCATGAATGTGTGCATGTGTGCATTTTTGTATGCATGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGTTTGTGTGCATGTGTATGTGTGCATGTGTGCGTGAGTGTATGCATGTGTGTGCATGTGCCAGTGTAGTGTGCTTGTGTGTGCATGTGTGCATGAGTGTGTGTGCATGTGTGTATGTGTGCATATGTATGCATGTGCATGTGTGCATCTGTGTGTGTGCATGTGTGTGCATGTGTGCGTATGTATGCATGTGTGCGTGAATGTATGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22580127
|
CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(78): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(7): Show | a0000c0007t0001a0001c0001t0001a0001c0001t0005others(12): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(70): Show | 81 | 342 | 0.2368 | -7 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3268_823+3274delTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22580989
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(98): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(295): Show | 326 | 342 | 0.9532 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+4109A>G | ||||||
|
chr1:22586326
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(100): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(307): Show | 338 | 342 | 0.9883 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-154T>C | ||||||
|
chr1:22591161
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(276): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(38): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(89): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(248): Show | 279 | 342 | 0.8158 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+1955G>A | ||||||
|
chr1:22596344
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0222a0001c0001t0007g0101a0001c0001t0007g0102 | 3 | 342 | 0.0088 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1765+171G>A | ||||||
|
chr1:22597070
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0007 | a0001c0001t0001g0222a0001c0001t0007g0101a0001c0001t0007g0102others(1): Show | 4 | 342 | 0.0117 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1766-238dupA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599736
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(183): Show |
a0000a0001a0003others(4): Show | a0000c0007a0000c0041a0000c0042others(21): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(46): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(167): Show | 186 | 342 | 0.5439 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+690dupA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599827
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(42): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(94): Show | a0000c0007t0001g0218a0000c0007t0001g0269a0000c0007t0010g0158others(286): Show | 315 | 342 | 0.9211 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+781dupA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599922
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(338): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(100): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(310): Show | 341 | 342 | 0.9971 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-739G>A | ||||||
|
chr1:22601515
|
A | AG | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(31): Show |
a0000a0001a0002others(2): Show | a0000c0007a0001c0001a0001c0002others(7): Show | a0000c0007t0003a0001c0001t0001a0001c0001t0003others(19): Show | a0000c0007t0003g0197a0001c0001t0001g0017a0001c0001t0001g0193others(30): Show | 34 | 342 | 0.0994 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 16/16 | c.2903+51dupG | INFO_REALIGN_3_PRIME |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 1/0 | a0001 | 1005 | 265 | 67 | 62 | 89 | 12 | 34 | subcellular location copy fasta | chr1 | 22558489 | 22608595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 1/0 | c0001 | 3018 | 150 | 34 | 29 | 66 | 7 | 13 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | t0007 | 1997 | 15 | 0 | 5 | 8 | 1 | 1 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | g0102 | 1 | 0 | 1 | 0 | 0 | 0 | chr1 | 22558489 | 22608595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 1/0 | a0001c0001 | 150 | 34 | 29 | 66 | 7 | 13 | 3018 | copy fasta | chr1 | 22558489 | 22608595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0001t0007 | 13 | 0 | 3 | 8 | 1 | 1 | 5014 | copy fasta | chr1 | 22558489 | 22608595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0001t0007g0102 | 1 | 0 | 1 | 0 | 0 | 0 | chr1 | 22558489 | 22608595 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 22563729 | + | 1 | -0.8076 | -0.8076 | -0.8076 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569289 | + | 2 | 0.9117 | 0.9117 | 0.9117 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569353 | + | 2 | -0.9398 | -0.9398 | -0.9398 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576217 | + | 3 | 0.9657 | 0.9657 | 0.9657 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576880 | + | 3 | -0.7646 | -0.7645 | -0.7646 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586480 | + | 4 | 0.9769 | 0.9769 | 0.9769 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586635 | + | 4 | -0.9753 | -0.9753 | -0.9753 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22588871 | + | 5 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22589206 | + | 5 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593326 | + | 6 | 0.9786 | 0.9786 | 0.9786 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593450 | + | 6 | -0.9949 | -0.9949 | -0.9949 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593524 | + | 7 | 0.9921 | 0.9921 | 0.9921 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593686 | + | 7 | -0.9855 | -0.9855 | -0.9855 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595230 | + | 8 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595323 | + | 8 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596106 | + | 9 | 0.9859 | 0.9859 | 0.9859 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596173 | + | 9 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597312 | + | 10 | 0.9877 | 0.9877 | 0.9877 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597476 | + | 10 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597676 | + | 11 | 0.9943 | 0.9943 | 0.9943 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597861 | + | 11 | -0.9908 | -0.9908 | -0.9908 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598151 | + | 12 | 0.7878 | 0.7877 | 0.7878 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598212 | + | 12 | -0.9863 | -0.9862 | -0.9863 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598838 | + | 13 | 0.9711 | 0.9710 | 0.9711 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22599047 | + | 13 | -0.9973 | -0.9972 | -0.9973 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600661 | + | 14 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600810 | + | 14 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600898 | + | 15 | 0.9737 | 0.9737 | 0.9737 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601088 | + | 15 | -0.9276 | -0.9276 | -0.9276 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601300 | + | 16 | 0.9827 | 0.9827 | 0.9827 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601473 | + | 16 | -0.9699 | -0.9699 | -0.9699 | 0.0000 | acceptor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601627 | + | 17 | 0.8877 | 0.8877 | 0.8877 | 0.0000 | donor | a0001c0001t0007g0102 | HG01175.hp1 | HG01175.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22559927
|
c.-3709C>T | Baseline memory0.049103 | a0000a0001a0002a0003a0009others(1): Show | a0000c0041a0001c0001a0001c0005a0001c0008a0001c0009others(6): Show | a0000c0041t0001a0001c0001t0001a0001c0001t0003a0001c0001t0007a0001c0005t0003others(13): Show | a0000c0041t0001g0031a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0050a0001c0001t0001g0056others(32): Show | HG00280.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01175.hp1 others(33): Show |
Sex-specific genetic architecture of late-life mem others(16): Show |
13,154 European ancestry females, 2,487 African an others(15): Show |
ZBTB40 - EPHA8 | rs56020417-? | + | MODIFIER | chr1 | C | T |