rs1939992
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1939992(C;C) |
| Make rs1939992(C;T) |
| Make rs1939992(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 126939809 |
| Gene | KIRREL3, KIRREL3-AS2, LOC105369559 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1939992 |
| dbSNP (classic) | rs1939992 |
| ClinGen | rs1939992 |
| ebi | rs1939992 |
| HLI | rs1939992 |
| Exac | rs1939992 |
| Gnomad | rs1939992 |
| Varsome | rs1939992 |
| LitVar | rs1939992 |
| Map | rs1939992 |
| PheGenI | rs1939992 |
| Biobank | rs1939992 |
| 1000 genomes | rs1939992 |
| hgdp | rs1939992 |
| ensembl | rs1939992 |
| geneview | rs1939992 |
| scholar | rs1939992 |
| rs1939992 | |
| pharmgkb | rs1939992 |
| gwascentral | rs1939992 |
| openSNP | rs1939992 |
| 23andMe | rs1939992 |
| SNPshot | rs1939992 |
| SNPdbe | rs1939992 |
| MSV3d | rs1939992 |
| GWAS Ctlg | rs1939992 |
| GMAF | 0.1919 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 18464913 ]
|
| Trait | Protein quantitative trait loci |
| Title | A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs) |
| Risk Allele | |
| P-val | 9.9999999999999995E-7 |
| Odds Ratio | NR NR |
[PMID 18464913] total Insulin-like growth factor (IGF-1, IGF1) protein levels
[PMID 17273967] Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
