rs3748816
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs3748816(C;C) |
| Make rs3748816(C;T) |
| Make rs3748816(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 2595307 |
| Gene | MMEL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3748816 |
| dbSNP (classic) | rs3748816 |
| ClinGen | rs3748816 |
| ebi | rs3748816 |
| HLI | rs3748816 |
| Exac | rs3748816 |
| Gnomad | rs3748816 |
| Varsome | rs3748816 |
| LitVar | rs3748816 |
| Map | rs3748816 |
| PheGenI | rs3748816 |
| Biobank | rs3748816 |
| 1000 genomes | rs3748816 |
| hgdp | rs3748816 |
| ensembl | rs3748816 |
| geneview | rs3748816 |
| scholar | rs3748816 |
| rs3748816 | |
| pharmgkb | rs3748816 |
| gwascentral | rs3748816 |
| openSNP | rs3748816 |
| 23andMe | rs3748816 |
| SNPshot | rs3748816 |
| SNPdbe | rs3748816 |
| MSV3d | rs3748816 |
| GWAS Ctlg | rs3748816 |
| GMAF | 0.477 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20190752 ]
|
| Trait | Celiac disease |
| Title | Multiple common variants for celiac disease influencing immune gene expression |
| Risk Allele | |
| P-val | 3E-9 |
| Odds Ratio | 1.12 [1.09-1.18] |
[PMID 20574445] A non-synonymous SNP within the membrane metalloendopeptidase-like 1 gene (MMEL1) is associated with multiple sclerosis.
The G allele is associated with 1.3 times higher odds of primary biliary cirrhosis. [PMID 20639879]
[PMID 21383967] Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
Primary Biliary Cirrhosis: Preliminary Research
[PMID 22521342] Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.
[PMID 22922229] Seven newly identified loci for autoimmune thyroid disease.
