rs182549
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | possibly lactose intolerant |
| (C;T) | 1 | Can digest milk. |
| (T;T) | 1 | Can digest milk. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 135859184 |
| Gene | MCM6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs182549 |
| dbSNP (classic) | rs182549 |
| ClinGen | rs182549 |
| ebi | rs182549 |
| HLI | rs182549 |
| Exac | rs182549 |
| Gnomad | rs182549 |
| Varsome | rs182549 |
| LitVar | rs182549 |
| Map | rs182549 |
| PheGenI | rs182549 |
| Biobank | rs182549 |
| 1000 genomes | rs182549 |
| hgdp | rs182549 |
| ensembl | rs182549 |
| geneview | rs182549 |
| scholar | rs182549 |
| rs182549 | |
| pharmgkb | rs182549 |
| gwascentral | rs182549 |
| openSNP | rs182549 |
| 23andMe | rs182549 |
| SNPshot | rs182549 |
| SNPdbe | rs182549 |
| MSV3d | rs182549 |
| GWAS Ctlg | rs182549 |
| GMAF | 0.2332 |
| Max Magnitude | 2 |
Also known as "G/A(-22018)" and located in the MCM6 but with influence on the lactase LCT gene, rs182549 is one of two SNPs that is associated with the primary haplotype associated with hypolactasia, more commonly known as lactose intolerance in European Caucasian populations. [PMID 11788828, PMID 15114531]
In these populations, the rs182549(C) allele (as named in accordance with dbSNP) is both the more common allele and the one associated with lactose intolerance.
In populations of sub-Saharan Africans, though, the rs182549(C) allele is unlikely to be predictive of lactose intolerance, and other SNPs are predictive instead. [PMID 15106124, PMID 17159977]
- See also OMIM 601806.0002
[PMID 22572735] Lactase persistence may have an independent origin in Tibetan populations from Tibet, China
[PMID 18974842
] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 19326473] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
[PMID 19668368] Ancestry analysis in the 11-M Madrid bomb attack investigation.
[PMID 20031626] Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.
[PMID 23028602] Lactase persistence and lipid pathway selection in the Maasai.
[PMID 23029545] Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.
| ClinVar | |
|---|---|
| Risk | Rs182549(T;T) |
| Alt | Rs182549(T;T) |
| Reference | Rs182549(C;C) |
| Significance | Other |
| Disease | Lactase persistence |
| Variation | info |
| Gene | MCM6 |
| CLNDBN | Lactase persistence |
| Reversed | 0 |
| HGVS | NC_000002.11:g.136616754C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008125.2, |
