| geneid | 51195 |
|---|---|
| ensemblid | ENSG00000108352.13 |
| hgncid | 17428 |
| symbol | RAPGEFL1 |
| name | Rap guanine nucleotide exchange factor like 1 |
| refseq_nuc | NM_016339.6 |
| refseq_prot | NP_057423.2 |
| ensembl_nuc | ENST00000620260.6 |
| ensembl_prot | ENSP00000479735.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 40177470 |
| end | 40195650 |
| strand | + |
| ver | v1.2 |
| region | chr17:40177470-40195650 |
| region5000 | chr17:40172470-40200650 |
| regionname0 | RAPGEFL1_chr17_40177470_40195650 |
| regionname5000 | RAPGEFL1_chr17_40172470_40200650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:40177851
|
C | CG | 0.0823 | start_retained_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG02109.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0017a0001c0001t0028a0001c0001t0029others(17): Show | a0001c0001t0017g0036a0001c0001t0028g0187a0001c0001t0028g0188others(22): Show | 26 | 316 | 1 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 1/15 | c.-2dupG | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:40177498
|
AGCCGCCG others(2): Show |
A | 0.0158 | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0076a0001c0001t0077others(2): Show | a0001c0001t0075g0041a0001c0001t0076g0207a0001c0001t0077g0192others(2): Show | 5 | 316 | -9 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 1/15 | c.-349_-341delCGCCGCCGC | 341 | INFO_REALIGN_3_PRIME | ||||
|
chr17:40177562
|
G | A | 0.0063 | 5_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0076 | a0001c0001t0075g0041a0001c0001t0076g0207 | 2 | 316 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 1/15 | c.-300G>A | 300 | |||||
|
chr17:40194232
|
CGTGTGTG others(19): Show |
C | 0.0032 | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0207 | 1 | 316 | -26 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 15/15 | c.*477_*502delGTGTGTGTGTGTGTGTGTGTGTGTGT | 477 | INFO_REALIGN_3_PRIME | ||||
|
chr17:40195374
|
C | G | 0.3639 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(112): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(40): Show | a0001c0001t0005g0004a0001c0001t0005g0005a0001c0001t0005g0013others(93): Show | 115 | 316 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 15/15 | c.*1586C>G | 1586 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:40178580
|
A | G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0207 | 1 | 316 | 0.0032 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 1/14 | c.520+199A>G | ||||||
|
chr17:40179864
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(18): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(23): Show | 27 | 316 | 0.0854 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 1/14 | c.520+1483A>C | ||||||
|
chr17:40180564
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 1/14 | c.521-1052G>A | ||||||
|
chr17:40182012
|
G | A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0207 | 1 | 316 | 0.0032 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.599+318G>A | ||||||
|
chr17:40182882
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.599+1188A>T | ||||||
|
chr17:40182883
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.599+1189T>C | ||||||
|
chr17:40183518
|
C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0151a0001c0001t0003g0146a0001c0001t0004g0147others(9): Show | 12 | 316 | 0.0380 | 1 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.600-678dupT | INFO_REALIGN_3_PRIME | |||||
|
chr17:40183744
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.600-470T>C | ||||||
|
chr17:40183876
|
C | G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0077a0001c0001t0078others(1): Show | a0001c0001t0076g0207a0001c0001t0077g0192a0001c0001t0078g0193others(1): Show | 4 | 316 | 0.0127 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.600-338C>G | ||||||
|
chr17:40183984
|
C | T | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0077a0001c0001t0078others(1): Show | a0001c0001t0076g0207a0001c0001t0077g0192a0001c0001t0078g0193others(1): Show | 4 | 316 | 0.0127 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.600-230C>T | ||||||
|
chr17:40184035
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.600-179C>G | ||||||
|
chr17:40184124
|
G | A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0077a0001c0001t0078others(1): Show | a0001c0001t0076g0207a0001c0001t0077g0192a0001c0001t0078g0193others(1): Show | 4 | 316 | 0.0127 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 2/14 | c.600-90G>A | ||||||
|
chr17:40184759
|
T | G | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0076a0001c0006t0066a0001c0006t0067 | a0001c0001t0076g0207a0001c0006t0066g0054a0001c0006t0067g0055 | 3 | 316 | 0.0095 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.833+81T>G | ||||||
|
chr17:40185540
|
A | AT | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0024a0001c0001t0029others(8): Show | a0001c0001t0009g0186a0001c0001t0024g0199a0001c0001t0029g0039others(9): Show | 13 | 316 | 0.0411 | 1 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.833+862_833+863insT | ||||||
|
chr17:40185683
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.833+1005G>C | ||||||
|
chr17:40185783
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0106a0001c0001t0001g0181a0001c0001t0002g0031others(10): Show | 13 | 316 | 0.0411 | -1 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.833+1125delA | INFO_REALIGN_3_PRIME | |||||
|
chr17:40186131
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.833+1453A>G | ||||||
|
chr17:40186892
|
CA | C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0024others(4): Show | a0001c0001t0003g0079a0001c0001t0006g0126a0001c0001t0024g0199others(4): Show | 7 | 316 | 0.0222 | -1 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.834-1956delA | INFO_REALIGN_3_PRIME | |||||
|
chr17:40187236
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.834-1630T>C | ||||||
|
chr17:40187704
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0024others(17): Show | a0001c0001t0009g0186a0001c0001t0017g0036a0001c0001t0024g0199others(22): Show | 26 | 316 | 0.0823 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.834-1162A>G | ||||||
|
chr17:40187813
|
T | G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0077a0001c0001t0078others(1): Show | a0001c0001t0076g0207a0001c0001t0077g0192a0001c0001t0078g0193others(1): Show | 4 | 316 | 0.0127 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.834-1053T>G | ||||||
|
chr17:40187912
|
C | T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0207 | 1 | 316 | 0.0032 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 4/14 | c.834-954C>T | ||||||
|
chr17:40189954
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(188): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0029others(167): Show | 191 | 316 | 0.6044 | -1 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 6/14 | c.1115-465delA | INFO_REALIGN_3_PRIME | |||||
|
chr17:40190060
|
T | C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0207 | 1 | 316 | 0.0032 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 6/14 | c.1115-374T>C | ||||||
|
chr17:40193646
|
T | C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0207 | 1 | 316 | 0.0032 | 0 | RAPGEFL1 | ENSG00000108352.13 | transcript | ENST00000620260.6 | protein_coding | 14/14 | c.1865-18T>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 1/1 | a0001 | 662 | 306 | 87 | 62 | 117 | 10 | 28 | subcellular location copy fasta | chr17 | 40172470 | 40200650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 1/1 | c0001 | 1989 | 291 | 80 | 61 | 111 | 9 | 28 | copy fasta | chr17 | 40172470 | 40200650 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 0/0 | t0076 | 2221 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | chr17 | 40172470 | 40200650 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 0/0 | g0207 | 1 | 1 | 0 | 0 | 0 | 0 | chr17 | 40172470 | 40200650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 1/1 | a0001c0001 | 291 | 80 | 61 | 111 | 9 | 28 | 1989 | copy fasta | chr17 | 40172470 | 40200650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 0/0 | a0001c0001t0076 | 1 | 1 | 0 | 0 | 0 | 0 | 4209 | copy fasta | chr17 | 40172470 | 40200650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| RAPGEFL1 | 0/0 | a0001c0001t0076g0207 | 1 | 1 | 0 | 0 | 0 | 0 | chr17 | 40172470 | 40200650 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 40178381 | + | 1 | -0.9892 | -0.9892 | -0.9892 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40181616 | + | 2 | 0.6737 | 0.6737 | 0.6737 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40181694 | + | 2 | -0.2520 | -0.2520 | -0.2520 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40184349 | + | 3 | -0.5980 | -0.5980 | -0.5980 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40184581 | + | 4 | 0.9873 | 0.9873 | 0.9873 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40184678 | + | 4 | -0.9287 | -0.9287 | -0.9287 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40188866 | + | 5 | 0.9486 | 0.9486 | 0.9486 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40188978 | + | 5 | -0.9973 | -0.9972 | -0.9973 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40189208 | + | 6 | 0.9784 | 0.9784 | 0.9784 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40189375 | + | 6 | -0.9864 | -0.9864 | -0.9864 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40190434 | + | 7 | 0.9822 | 0.9822 | 0.9822 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40190531 | + | 7 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40190640 | + | 8 | 0.9785 | 0.9785 | 0.9785 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40190762 | + | 8 | -0.9900 | -0.9900 | -0.9900 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40191316 | + | 9 | 0.8551 | 0.8550 | 0.8551 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40191494 | + | 9 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40191582 | + | 10 | 0.9954 | 0.9953 | 0.9954 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40191672 | + | 10 | -0.9895 | -0.9895 | -0.9895 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40192213 | + | 11 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40192263 | + | 11 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40192606 | + | 12 | 0.9975 | 0.9975 | 0.9975 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40192693 | + | 12 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40192926 | + | 13 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40192990 | + | 13 | -0.9985 | -0.9984 | -0.9985 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40193363 | + | 14 | 0.9799 | 0.9799 | 0.9799 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40193417 | + | 14 | -0.9882 | -0.9882 | -0.9882 | 0.0000 | acceptor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 40193664 | + | 15 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0001t0076g0207 | HG02486.hp2 | HG02486.hp2 | RAPGEFL1 | chr17 | 40172470 | 40200650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:40196136
|
c.*2348C>A | White blood cell count | a0001a0004 | a0001c0001a0001c0002a0001c0006a0001c0011a0004c0008 | a0001c0001t0005a0001c0001t0007a0001c0001t0008a0001c0001t0009a0001c0001t0011others(38): Show | a0001c0001t0005g0004a0001c0001t0005g0005a0001c0001t0005g0013a0001c0001t0005g0022a0001c0001t0005g0024others(91): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 others(110): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 444,000 European ancestry individual others(2): Show |
RAPGEFL1 - WIPF2 | rs34223321-? | + | MODIFIER | chr17 | C | A | |
|
chr17:40196136
|
c.*2348C>A | White blood cell count0.019028006 | a0001a0004 | a0001c0001a0001c0002a0001c0006a0001c0011a0004c0008 | a0001c0001t0005a0001c0001t0007a0001c0001t0008a0001c0001t0009a0001c0001t0011others(38): Show | a0001c0001t0005g0004a0001c0001t0005g0005a0001c0001t0005g0013a0001c0001t0005g0022a0001c0001t0005g0024others(91): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 others(110): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | RAPGEFL1 | RAPGEFL1 - WIPF2 | rs34223321-A | + | MODIFIER | chr17 | C | A |
