| geneid | 84448 |
|---|---|
| ensemblid | ENSG00000163995.22 |
| hgncid | 19195 |
| symbol | ABLIM2 |
| name | actin binding LIM protein family member 2 |
| refseq_nuc | NM_001130083.2 |
| refseq_prot | NP_001123555.1 |
| ensembl_nuc | ENST00000447017.7 |
| ensembl_prot | ENSP00000393511.2 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 7965327 |
| end | 8158813 |
| strand | - |
| ver | v1.2 |
| region | chr4:7965327-8158813 |
| region5000 | chr4:7960327-8163813 |
| regionname0 | ABLIM2_chr4_7965327_8158813 |
| regionname5000 | ABLIM2_chr4_7960327_8163813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:8029744
|
A | G | 0.7174 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(228): Show | 231 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 11/21 | c.1080T>C | p.Cys360Cys | 1204/3725 | 1080/1938 | 360/645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:7965956
|
C | T | 0.2143 | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(9): Show | a0001c0001t0003g0012a0001c0001t0003g0046a0001c0001t0003g0047others(66): Show | 69 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 21/21 | c.*1034G>A | 1034 | |||||
|
chr4:7966148
|
G | A | 0.2329 | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0003g0012a0001c0001t0003g0046a0001c0001t0003g0047others(72): Show | 75 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 21/21 | c.*842C>T | 842 | |||||
|
chr4:7966514
|
G | A | 0.2298 | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0003g0012a0001c0001t0003g0046a0001c0001t0003g0047others(71): Show | 74 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 21/21 | c.*476C>T | 476 | |||||
|
chr4:7966592
|
A | C | 0.9814 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(313): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(313): Show | 316 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 21/21 | c.*398T>G | 398 | |||||
|
chr4:7966595
|
A | G | 0.9814 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(313): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(313): Show | 316 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 21/21 | c.*395T>C | 395 | |||||
|
chr4:7966845
|
C | T | 0.2391 | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0003g0012a0001c0001t0003g0046a0001c0001t0003g0047others(74): Show | 77 | 322 | 0 | ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 21/21 | c.*145G>A | 145 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABLIM2 | 1/1 | a0001 | 645 | 317 | 89 | 62 | 107 | 13 | 44 | subcellular location copy fasta | chr4 | 7960327 | 8163813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABLIM2 | 0/1 | c0001 | 1938 | 199 | 53 | 40 | 76 | 9 | 20 | copy fasta | chr4 | 7960327 | 8163813 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABLIM2 | 0/0 | t0005 | 1788 | 14 | 4 | 9 | 1 | 0 | 0 | copy fasta | chr4 | 7960327 | 8163813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABLIM2 | 0/1 | a0001c0001 | 199 | 53 | 40 | 76 | 9 | 20 | 1938 | copy fasta | chr4 | 7960327 | 8163813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABLIM2 | 0/0 | a0001c0001t0005 | 6 | 1 | 4 | 1 | 0 | 0 | 3725 | copy fasta | chr4 | 7960327 | 8163813 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8158680 | - | 1 | -0.8654 | -0.8521 | -0.8499 | 0.0155 | acceptor | a0001c0001t0005 | HG01261.hp2 | HG00597.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8106494 | - | 2 | -0.9991 | -0.9991 | -0.9991 | 0.0001 | acceptor | a0001c0001t0005 | HG01261.hp2 | HG01496.hp1 HG02818.hp1 |
ABLIM2 | chr4 | 7960327 | 8163813 |
| 8106637 | - | 2 | 0.9963 | 0.9962 | 0.9962 | 0.0002 | donor | a0001c0001t0005 | HG00597.hp2 HG01071.hp2 |
HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8097099 | - | 3 | -0.9972 | -0.9970 | -0.9966 | 0.0006 | acceptor | a0001c0001t0005 | HG01261.hp2 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8097282 | - | 3 | 0.9981 | 0.9981 | 0.9980 | 0.0001 | donor | a0001c0001t0005 | HG01975.hp1 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8088169 | - | 4 | -0.9928 | -0.9920 | -0.9904 | 0.0024 | acceptor | a0001c0001t0005 | HG01071.hp2 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8088284 | - | 4 | 0.9844 | 0.9839 | 0.9762 | 0.0082 | donor | a0001c0001t0005 | HG01496.hp1 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8080676 | - | 5 | -0.9914 | -0.9912 | -0.9905 | 0.0010 | acceptor | a0001c0001t0005 | HG01496.hp1 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8080802 | - | 5 | 0.9785 | 0.9782 | 0.9780 | 0.0005 | donor | a0001c0001t0005 | HG01975.hp1 | HG00597.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8077628 | - | 6 | -0.9987 | -0.9987 | -0.9986 | 0.0001 | acceptor | a0001c0001t0005 | HG01496.hp1 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8077721 | - | 6 | 0.9988 | 0.9988 | 0.9986 | 0.0002 | donor | a0001c0001t0005 | HG01071.hp2 | HG01496.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8060967 | - | 7 | -0.9974 | -0.9972 | -0.9777 | 0.0198 | acceptor | a0001c0001t0005 | HG02818.hp1 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8061054 | - | 7 | 0.9933 | 0.9903 | 0.8961 | 0.0973 | donor | a0001c0001t0005 | HG02818.hp1 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8054188 | - | 8 | -0.9965 | -0.9964 | -0.9962 | 0.0003 | acceptor | a0001c0001t0005 | HG01071.hp2 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8054246 | - | 8 | 0.9961 | 0.9959 | 0.9957 | 0.0004 | donor | a0001c0001t0005 | HG01496.hp1 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8045164 | - | 9 | -0.9940 | -0.9923 | -0.9920 | 0.0021 | acceptor | a0001c0001t0005 | HG01071.hp2 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8045241 | - | 9 | 0.9762 | 0.9726 | 0.9711 | 0.0051 | donor | a0001c0001t0005 | HG01261.hp2 | HG00597.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8036149 | - | 10 | -0.9981 | -0.9981 | -0.9978 | 0.0004 | acceptor | a0001c0001t0005 | HG01071.hp2 | HG00597.hp2 HG01496.hp1 |
ABLIM2 | chr4 | 7960327 | 8163813 |
| 8036295 | - | 10 | 0.9965 | 0.9952 | 0.9945 | 0.0020 | donor | a0001c0001t0005 | HG01496.hp1 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8029656 | - | 11 | -0.9955 | -0.9940 | -0.9933 | 0.0022 | acceptor | a0001c0001t0005 | HG02818.hp1 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8029776 | - | 11 | 0.9968 | 0.9963 | 0.9959 | 0.0009 | donor | a0001c0001t0005 | HG02818.hp1 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8027759 | - | 12 | -0.6535 | -0.6512 | -0.5890 | 0.0645 | acceptor | a0001c0001t0005 | HG01975.hp1 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8027857 | - | 12 | 0.7837 | 0.7798 | 0.7726 | 0.0111 | donor | a0001c0001t0005 | HG00597.hp2 | HG01496.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8020202 | - | 13 | -0.7515 | -0.7390 | -0.7390 | 0.0125 | acceptor | a0001c0001t0005 | HG01975.hp1 | HG00597.hp2 HG01261.hp2 HG01496.hp1 |
ABLIM2 | chr4 | 7960327 | 8163813 |
| 8020303 | - | 13 | 0.7075 | 0.7075 | 0.6416 | 0.0659 | donor | a0001c0001t0005 | HG00597.hp2 HG01071.hp2 HG01496.hp1 |
HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8019618 | - | 14 | -0.7492 | -0.7492 | -0.7116 | 0.0376 | acceptor | a0001c0001t0005 | HG00597.hp2 HG01071.hp2 HG01261.hp2 HG01496.hp1 |
HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8019671 | - | 14 | 0.6826 | 0.6489 | 0.6489 | 0.0337 | donor | a0001c0001t0005 | HG02818.hp1 | HG00597.hp2 HG01071.hp2 HG01261.hp2 HG01496.hp1 |
ABLIM2 | chr4 | 7960327 | 8163813 |
| 8009050 | - | 15 | -0.6943 | -0.6887 | -0.6726 | 0.0216 | acceptor | a0001c0001t0005 | HG02818.hp1 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8009102 | - | 15 | 0.7656 | 0.7564 | 0.7000 | 0.0656 | donor | a0001c0001t0005 | HG02818.hp1 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8008059 | - | 16 | -0.9578 | -0.9556 | -0.9297 | 0.0280 | acceptor | a0001c0001t0005 | HG01975.hp1 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 8008200 | - | 16 | 0.9735 | 0.9735 | 0.9689 | 0.0046 | donor | a0001c0001t0005 | HG01261.hp2 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7992866 | - | 17 | -0.8916 | -0.8588 | -0.7874 | 0.1042 | acceptor | a0001c0001t0005 | HG00597.hp2 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7992927 | - | 17 | 0.8499 | 0.8175 | 0.7672 | 0.0827 | donor | a0001c0001t0005 | HG00597.hp2 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7984839 | - | 18 | -0.8311 | -0.8156 | -0.8098 | 0.0213 | acceptor | a0001c0001t0005 | HG01261.hp2 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7984893 | - | 18 | 0.7211 | 0.7035 | 0.6838 | 0.0373 | donor | a0001c0001t0005 | HG01261.hp2 | HG01975.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7983547 | - | 19 | -0.6940 | -0.6816 | -0.6506 | 0.0434 | acceptor | a0001c0001t0005 | HG01261.hp2 | HG02818.hp1 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7983554 | - | 19 | 0.6028 | 0.5678 | 0.5554 | 0.0474 | donor | a0001c0001t0005 | HG00597.hp2 HG01496.hp1 |
HG01261.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7983264 | - | 20 | -0.9997 | -0.9997 | -0.9997 | 0.0000 | acceptor | a0001c0001t0005 | HG01975.hp1 | HG01071.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7983344 | - | 20 | 0.9993 | 0.9992 | 0.9991 | 0.0001 | donor | a0001c0001t0005 | HG00597.hp2 HG01496.hp1 |
HG01261.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 7967103 | - | 21 | 0.6299 | 0.6088 | 0.6045 | 0.0254 | donor | a0001c0001t0005 | HG01975.hp1 HG02818.hp1 |
HG00597.hp2 | ABLIM2 | chr4 | 7960327 | 8163813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8060962:splice 8060962:variant goto | c.763+5A>G | 1326052 | Benign | ABLIM2:84448 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 5 | 10 | 56 | 306 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(51): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0027others(301): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(301): Show |
LOW | chr4 | T | C | TogoVar |
| 8060963:splice 8060963:variant goto | c.763+4C>T | 1326083 | Benign | ABLIM2:84448 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 5 | 10 | 47 | 241 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0027others(236): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(236): Show |
LOW | chr4 | G | A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:8120494
|
c.11-13857C>T | Triacylglyceride levels0.2468 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0030others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0085a0001c0001t0001g0104a0001c0001t0001g0162others(31): Show | HG00323.hp2 HG00558.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 others(31): Show |
Genetic architecture of human plasma lipidome and others(35): Show |
2,045 European ancestry individuals/ | ABLIM2 | ABLIM2 | rs13151374-A | - | MODIFIER | chr4 | G | A |
|
chr4:8120494
|
c.11-13857C>T | Triacylglyceride levels0.2467 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0030others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0085a0001c0001t0001g0104a0001c0001t0001g0162others(31): Show | HG00323.hp2 HG00558.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 others(31): Show |
Genetic architecture of human plasma lipidome and others(35): Show |
2,045 European ancestry individuals/ | ABLIM2 | ABLIM2 | rs13151374-A | - | MODIFIER | chr4 | G | A |
|
chr4:7986075
|
c.1681-1182A>G | Post bronchodilator FEV1 in COPD0.114 | a0001a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0027others(114): Show | HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 others(114): Show |
A genome-wide association study identifies risk lo others(75): Show |
5,439 European ancestry current and former smoker others(60): Show |
ABLIM2 | ABLIM2 | rs6841948-C | - | MODIFIER | chr4 | T | C |
|
chr4:8040073
|
c.901-3778A>G | Cognitive function | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0028others(173): Show | HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 others(173): Show |
A genome-wide association study of cognitive funct others(27): Show |
139 Chinese ancestry dizygotic twin pairs/ | ABLIM2 | ABLIM2 | rs1574131-? | - | MODIFIER | chr4 | T | C |
|
chr4:8043246
|
c.900+1918C>G | Cognitive function | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0041a0001c0001t0001g0063a0001c0001t0001g0078a0001c0001t0001g0098a0001c0001t0001g0117others(52): Show | HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 others(52): Show |
A genome-wide association study of cognitive funct others(27): Show |
139 Chinese ancestry dizygotic twin pairs/ | ABLIM2 | ABLIM2 | rs79631799-? | - | MODIFIER | chr4 | G | C |
|
chr4:8028718
|
c.1169-861C>G | Vascular dementia0.0785008 | a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0061a0001c0001t0001g0070others(81): Show | HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 others(81): Show |
A genome-wide association meta-analysis of all-cau others(25): Show |
96 African ancestry cases, 7,315 African ancestry others(177): Show |
ABLIM2 | rs11933541-G | - | MODIFIER | chr4 | G | C | |
|
chr4:8027236
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c.1267+523T>A |
Alcohol consumption (drinks per week) (MTAG)< others(14): Show |
a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(45): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0027others(238): Show | HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 others(238): Show |
Association studies of up to 1.2 million individua others(75): Show |
up to 1,039,210 European ancestry individuals/ | NR | ABLIM2 | rs11728253-T | - | MODIFIER | chr4 | A | T |
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chr4:8108771
|
c.11-2134A>G | Irritable bowel syndrome0.091 | a0001a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(48): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0028others(250): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(250): Show |
Female-specific Association Between Variants on Ch others(67): Show |
7,130 British ancestry women cases, 2,446 British others(99): Show |
ABLIM2 | ABLIM2 | rs1105615-T | - | MODIFIER | chr4 | T | C |
|
chr4:8019865
|
c.1370-194T>G |
Diffusing capacity of carbon monoxide0.1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0041others(118): Show | HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 others(118): Show |
Genome-Wide Association Analysis of Single Breath others(45): Show |
2,584 European ancestry individuals with chronic o others(195): Show |
ABLIM2 | ABLIM2 | rs13131680-C | - | MODIFIER | chr4 | A | C |
|
chr4:8133491
|
c.10+25189C>T |
S-6-hydroxywarfarin to S-warfarin ratio1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0010 | a0001c0001t0002g0237a0001c0001t0002g0283a0001c0001t0005g0207a0001c0001t0006g0216a0001c0001t0010g0215 | HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 |
A genome-wide association study of plasma concentr others(85): Show |
510 Sub-Saharan African ancestry individuals/ | ABLIM2 | rs10014362-? | - | MODIFIER | chr4 | G | A | |
|
chr4:8015397
|
c.1423+4221A>G | TNFRSF14 protein levels0.3254 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(46): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0027others(233): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(233): Show |
Genetic determinants of plasma protein levels in t others(23): Show |
496 European ancestry individuals/ | ABLIM2 | rs9990943-C | - | MODIFIER | chr4 | T | C | |
|
chr4:8048616
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c.823-3375C>T | Early onset periodontitis x smoking status interactionothers(14): Show | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0037others(107): Show | HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 others(107): Show |
Smoking Modifies the Genetic Risk for Early-Onset others(14): Show |
499 European ancestry ever-smoker cases, 242 Europ others(32): Show |
ABLIM2 | ABLIM2 | rs10029338-A | - | MODIFIER | chr4 | G | A |
|
chr4:8098431
|
c.155-1149C>T | Concentration of apixaban (at 12h) | a0001a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0104a0001c0001t0001g0118others(36): Show | HG00140.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG01074.hp1 others(36): Show |
Identification of genetic biomarkers associated wi others(83): Show |
181 Chinese ancestry individuals/ | ABLIM2 | rs13119941-? | - | MODIFIER | chr4 | G | A | |
|
chr4:8059780
|
c.763+1187G>T | Diffuse gastric cancer1.79 | a0001a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0050others(80): Show | HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 others(80): Show |
rs2671655 single nucleotide polymorphism modulates others(131): Show |
638 East Asian ancestry individuals/ | ABLIM2 | rs2076771-A | - | MODIFIER | chr4 | C | A |
