| geneid | 2015 |
|---|---|
| ensemblid | ENSG00000174837.15 |
| hgncid | 3336 |
| symbol | ADGRE1 |
| name | adhesion G protein-coupled receptor E1 |
| refseq_nuc | NM_001974.5 |
| refseq_prot | NP_001965.3 |
| ensembl_nuc | ENST00000312053.9 |
| ensembl_prot | ENSP00000311545.3 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 6887579 |
| end | 6940450 |
| strand | + |
| ver | v1.2 |
| region | chr19:6887579-6940450 |
| region5000 | chr19:6882579-6945450 |
| regionname0 | ADGRE1_chr19_6887579_6940450 |
| regionname5000 | ADGRE1_chr19_6882579_6945450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:6887613
|
G | T | 0.0148 | missense_variant | MODERATE | HG02055.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0028a0029a0030others(2): Show | a0028c0066a0029c0067a0030c0068others(2): Show | a0028c0066t0004a0029c0067t0002a0030c0068t0001others(2): Show | a0028c0066t0004g0080a0029c0067t0002g0152a0030c0068t0001g0093others(2): Show | 5 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/21 | c.5G>T | p.Arg2Leu | 35/3112 | 5/2661 | 2/886 | ||
|
chr19:6919613
|
A | C | 0.7041 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(235): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(234): Show | 238 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/21 | c.1486A>C | p.Lys496Gln | 1516/3112 | 1486/2661 | 496/886 | ||
|
chr19:6919742
|
A | G | 0.7071 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(236): Show |
a0001a0002a0004others(34): Show | a0001c0001a0001c0027a0001c0042others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(235): Show | 239 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/21 | c.1615A>G | p.Ile539Val | 1645/3112 | 1615/2661 | 539/886 | ||
|
chr19:6926367
|
T | C | 0.3698 | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(122): Show |
a0004a0006a0007others(30): Show | a0004c0004a0006c0006a0007c0007others(30): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(55): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066others(121): Show | 125 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 16/21 | c.1988T>C | p.Met663Thr | 2018/3112 | 1988/2661 | 663/886 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRE1 | 0/0 | a0031 | 886 | 1 | 1 | 0 | 0 | 0 | 0 | subcellular location copy fasta | chr19 | 6882579 | 6945450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRE1 | 0/0 | c0065 | 2661 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | chr19 | 6882579 | 6945450 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRE1 | 1/0 | t0002 | 452 | 98 | 32 | 16 | 34 | 2 | 13 | copy fasta | chr19 | 6882579 | 6945450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRE1 | 0/0 | a0031c0065 | 1 | 1 | 0 | 0 | 0 | 0 | 2661 | copy fasta | chr19 | 6882579 | 6945450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRE1 | 0/0 | a0031c0065t0002 | 1 | 1 | 0 | 0 | 0 | 0 | 3112 | copy fasta | chr19 | 6882579 | 6945450 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 6887639 | + | 1 | -0.1461 | -0.1461 | -0.1461 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6890481 | + | 2 | 0.9875 | 0.9875 | 0.9875 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6890543 | + | 2 | -0.9681 | -0.9681 | -0.9681 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6896398 | + | 3 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6896541 | + | 3 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6897149 | + | 4 | 0.4094 | 0.4094 | 0.4094 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6897304 | + | 4 | -0.7227 | -0.7227 | -0.7227 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6897428 | + | 5 | 0.9860 | 0.9860 | 0.9860 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6897547 | + | 5 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6901875 | + | 6 | 0.9884 | 0.9884 | 0.9884 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6902021 | + | 6 | -0.9956 | -0.9956 | -0.9956 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6903810 | + | 7 | 0.9781 | 0.9781 | 0.9781 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6903950 | + | 7 | -0.9859 | -0.9859 | -0.9859 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6904036 | + | 8 | 0.6411 | 0.6411 | 0.6411 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6904182 | + | 8 | -0.9038 | -0.9038 | -0.9038 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6906433 | + | 9 | 0.9841 | 0.9841 | 0.9841 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6906521 | + | 9 | -0.8194 | -0.8194 | -0.8194 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6908689 | + | 10 | 0.9771 | 0.9771 | 0.9771 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6908772 | + | 10 | -0.9702 | -0.9702 | -0.9702 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6913653 | + | 11 | 0.9869 | 0.9869 | 0.9869 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6913830 | + | 11 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6916249 | + | 12 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6916368 | + | 12 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6919548 | + | 13 | 0.9877 | 0.9877 | 0.9877 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6919747 | + | 13 | -0.9699 | -0.9699 | -0.9699 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6921713 | + | 14 | 0.9845 | 0.9845 | 0.9845 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6921883 | + | 14 | -0.9874 | -0.9874 | -0.9874 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6924678 | + | 15 | 0.3021 | 0.3021 | 0.3021 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6924872 | + | 15 | -0.8291 | -0.8291 | -0.8291 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6926366 | + | 16 | 0.9921 | 0.9921 | 0.9921 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6926601 | + | 16 | -0.9930 | -0.9930 | -0.9930 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6928145 | + | 17 | 0.9084 | 0.9084 | 0.9084 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6928211 | + | 17 | -0.7824 | -0.7824 | -0.7824 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6934987 | + | 18 | 0.9783 | 0.9783 | 0.9783 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6935078 | + | 18 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6937243 | + | 19 | 0.9957 | 0.9957 | 0.9957 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6937411 | + | 19 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6937544 | + | 20 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6937648 | + | 20 | -0.9893 | -0.9893 | -0.9893 | 0.0000 | acceptor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 6940024 | + | 21 | 0.7187 | 0.7187 | 0.7187 | 0.0000 | donor | a0031c0065t0002 | NA19240.hp2 | NA19240.hp2 | ADGRE1 | chr19 | 6882579 | 6945450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 6887613:splice 6887613:variant goto | c.5G>Tp.Arg2Leu | 775402 | Benign | ADGRE1:2015 LOC130063344:130063344 |
SO:0001583 missense_variant |
MedGen:C3661900 | + | 5 | 5 | 5 | 5 | a0028a0029a0030a0031a0032 | a0028c0066a0029c0067a0030c0068a0031c0065a0032c0064 | a0028c0066t0004a0029c0067t0002a0030c0068t0001a0031c0065t0002a0032c0064t0004 | a0028c0066t0004g0080a0029c0067t0002g0152a0030c0068t0001g0093a0031c0065t0002g0111a0032c0064t0004g0113 | HG02055.hp1 HG02809.hp1 HG02886.hp2 HG03579.hp2 NA19240.hp2 |
MODERATE | chr19 | G | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:6920348
|
c.1620+601T>G | COVID-19 (severe vs non-severe with positive test)others(17): Show | a0004a0006a0007a0010a0011others(19): Show | a0004c0004a0006c0006a0007c0007a0010c0012a0011c0011others(19): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004a0004c0004t0005a0004c0004t0006others(36): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066a0004c0004t0001g0077a0004c0004t0001g0163others(83): Show | HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 others(84): Show |
A year of COVID-19 GWAS results from the GRASP por others(43): Show |
387 European ancestry female cases, 7,976 European others(64): Show |
ADGRE1 | rs113558515-G | + | MODIFIER | chr19 | T | G | |
|
chr19:6920348
|
c.1620+601T>G |
COVID-19 (severe vs tested, not severe)0 others(6): Show |
a0004a0006a0007a0010a0011others(19): Show | a0004c0004a0006c0006a0007c0007a0010c0012a0011c0011others(19): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004a0004c0004t0005a0004c0004t0006others(36): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066a0004c0004t0001g0077a0004c0004t0001g0163others(83): Show | HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 others(84): Show |
A year of COVID-19 GWAS results from the GRASP por others(43): Show |
1,120 European ancestry cases, 79,439 European anc others(15): Show |
ADGRE1 | rs113558515-G | + | MODIFIER | chr19 | T | G | |
|
chr19:6920348
|
c.1620+601T>G |
COVID-19 (severe vs tested, not severe)0 others(5): Show |
a0004a0006a0007a0010a0011others(19): Show | a0004c0004a0006c0006a0007c0007a0010c0012a0011c0011others(19): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004a0004c0004t0005a0004c0004t0006others(36): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066a0004c0004t0001g0077a0004c0004t0001g0163others(83): Show | HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 others(84): Show |
A year of COVID-19 GWAS results from the GRASP por others(43): Show |
1,120 European ancestry cases, 79,439 European anc others(42): Show |
ADGRE1 | rs113558515-G | + | MODIFIER | chr19 | T | G | |
|
chr19:6920086
|
c.1620+339T>C | COVID-19 (severe vs population)0.44481 | a0004a0006a0007a0010a0011others(19): Show | a0004c0004a0006c0006a0007c0007a0010c0012a0011c0011others(19): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004a0004c0004t0005a0004c0004t0006others(36): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066a0004c0004t0001g0077a0004c0004t0001g0163others(83): Show | HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 others(84): Show |
A year of COVID-19 GWAS results from the GRASP por others(43): Show |
387 European ancestry female cases, 248,912 Europe others(28): Show |
ADGRE1 | rs11668744-C | + | MODIFIER | chr19 | T | C | |
|
chr19:6920348
|
c.1620+601T>G | COVID-19 (severe vs population)0.24502 | a0004a0006a0007a0010a0011others(19): Show | a0004c0004a0006c0006a0007c0007a0010c0012a0011c0011others(19): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004a0004c0004t0005a0004c0004t0006others(36): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066a0004c0004t0001g0077a0004c0004t0001g0163others(83): Show | HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 others(84): Show |
A year of COVID-19 GWAS results from the GRASP por others(43): Show |
1,120 European ancestry cases, 458,130 European an others(16): Show |
ADGRE1 | rs113558515-G | + | MODIFIER | chr19 | T | G | |
|
chr19:6931207
|
c.2289+2996T>C | ADGRE1 protein levels0.1346957 | a0002a0003a0004a0006a0007others(44): Show | a0002c0002a0003c0003a0004c0004a0006c0006a0007c0007others(44): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0002a0003c0003t0003a0003c0003t0004others(73): Show | a0002c0002t0001g0055a0002c0002t0001g0250a0003c0003t0001g0003a0003c0003t0001g0039a0003c0003t0001g0044others(173): Show | HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00733.hp2 others(175): Show |
A scalable variational inference approach for incr others(36): Show |
47,745 European ancestry individuals/ | ADGRE1 | rs7249745-C | + | MODIFIER | chr19 | T | C |