| geneid | 25980 |
|---|---|
| ensemblid | ENSG00000131043.13 |
| hgncid | 15886 |
| symbol | AAR2 |
| name | AAR2 splicing factor |
| refseq_nuc | NM_001271874.2 |
| refseq_prot | NP_001258803.1 |
| ensembl_nuc | ENST00000320849.9 |
| ensembl_prot | ENSP00000313674.4 |
| mane_status | MANE Select |
| chr | chr20 |
| start | 36236478 |
| end | 36256933 |
| strand | + |
| ver | v1.2 |
| region | chr20:36236478-36256933 |
| region5000 | chr20:36231478-36261933 |
| regionname0 | AAR2_chr20_36236478_36256933 |
| regionname5000 | AAR2_chr20_36231478_36261933 |
| 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 |
|---|
| 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr20:36237750
|
GTAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00639.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0026others(34): Show | 56 | 298 | 0.1879 | -3 | AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | c.-49+1294_-49+1296delATT | INFO_REALIGN_3_PRIME | |||||
|
chr20:36242663
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(190): Show | 295 | 298 | 0.9899 | 0 | AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | c.758-2034A>G |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 1/1 | a0001 | 384 | 295 | 82 | 61 | 114 | 10 | 26 | subcellular location copy fasta | chr20 | 36231478 | 36261933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 1/1 | c0001 | 1155 | 233 | 34 | 53 | 108 | 10 | 26 | copy fasta | chr20 | 36231478 | 36261933 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 1/1 | t0001 | 1263 | 243 | 46 | 51 | 109 | 10 | 25 | copy fasta | chr20 | 36231478 | 36261933 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 0/0 | g0008 | 5 | 0 | 2 | 3 | 0 | 0 | chr20 | 36231478 | 36261933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 1/1 | a0001c0001 | 233 | 34 | 53 | 108 | 10 | 26 | 1155 | copy fasta | chr20 | 36231478 | 36261933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 1/1 | a0001c0001t0001 | 219 | 32 | 49 | 101 | 10 | 25 | 2417 | copy fasta | chr20 | 36231478 | 36261933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAR2 | 0/0 | a0001c0001t0001g0008 | 5 | 0 | 2 | 3 | 0 | 0 | chr20 | 36231478 | 36261933 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 36236503 | + | 1 | -0.6901 | -0.6900 | -0.6897 | 0.0004 | acceptor | a0001c0001t0001g0008 | HG01934.hp2 | HG00609.hp1 HG00733.hp2 |
AAR2 | chr20 | 36231478 | 36261933 |
| 36239821 | + | 2 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0001c0001t0001g0008 | HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
AAR2 | chr20 | 36231478 | 36261933 |
| 36240625 | + | 2 | -0.9943 | -0.9943 | -0.9943 | 0.0000 | acceptor | a0001c0001t0001g0008 | HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
AAR2 | chr20 | 36231478 | 36261933 |
| 36244697 | + | 3 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0001c0001t0001g0008 | HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
AAR2 | chr20 | 36231478 | 36261933 |
| 36244926 | + | 3 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0001t0001g0008 | HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
HG00609.hp1 HG00733.hp2 HG01934.hp2 HG02027.hp1 HG02135.hp1 |
AAR2 | chr20 | 36231478 | 36261933 |
| 36255578 | + | 4 | 0.7087 | 0.7063 | 0.6994 | 0.0093 | donor | a0001c0001t0001g0008 | HG00609.hp1 HG02135.hp1 |
HG01934.hp2 | AAR2 | chr20 | 36231478 | 36261933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr20:36242663
|
c.758-2034A>G | Low tan response0.269 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006a0001c0001t0008a0001c0001t0009others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(188): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 others(290): Show |
Genome-wide association study in 176,678 Europeans others(59): Show |
46,768 European ancestry low tanning cases, 74,528 others(158): Show |
NR | AAR2 | rs2425192-A | + | MODIFIER | chr20 | A | G |
|
chr20:36261389
|
c.*5644G>A | Shoulder impingement syndrome0.859708 | a0001a0003 | a0001c0001a0001c0002a0001c0004a0001c0007a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0008a0001c0001t0009a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(106): Show | HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 others(146): Show |
Genome-Wide Association Analysis Identified ANXA1 others(68): Show |
7,252 European ancestry individuals/ | AAR2 | rs2104009-G | + | MODIFIER | chr20 | G | A |