Target | cis/trans | Study | SNP | SNP location | Maj/min allele | MAF | N | βinv | seinv | Pinv | fclog | Plog | Praw |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Carbonic anhydrase XIII | cis | Discovery | rs17741049 | 8:86,198,253 | C/T | 0.07 | 997 | -0.744 | 0.080 | 7.9×10-20 | -1.380 | 9.8×10-19 | 2.9×10-14 |
Target (abbrv.) | Carbonic anhydrase XIII |
Target (full name) | Carbonic anhydrase 13 |
Somalogic ID (Sequence ID) | SL004869 (3420-21_2) |
Entrez Gene Symbol | CA13 |
UniProt ID | Q8N1Q1 |
UniProt Comment |
|
Targeted by drugs (based on IPA annotation) |
|
Reactome |
|
All locus annotations are based on the sentinel SNP (rs17741049) and 35 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)
Genes hit or close-by |
|
Potentially regulated genes | |
eQTL genes |
|
Trait | P | Study | Source |
---|---|---|---|
cg04207142 (chr8:86089082) | 6.5×10-18 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
cg07736716 (chr8:86291664) | 4.3×10-7 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
cg12112870 (chr8:86112955) | 1.1×10-6 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
cg13721134 (chr8:86350414) | 4.7×10-6 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
Psoriasis and/or psoriatic arthritis | 1.3×10-5 | 18369459 (PMID) | GRASP2 nonQTL |
Primary rhegmatogenous retinal detachment | 9×10-5 | 23585552 (PMID) | GRASP2 nonQTL |
Triglycerides | 4.9×10-4 | 19060906 (PMID) | GRASP2 nonQTL |
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