rs41380347
| Lactase persistence, also known as "-13915*G" common in Arab populations |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 2.5 | Lactase persistence |
| (G;T) | 1.5 | carrier of the lactase persistence allele also known as "-13915*G", common in Arab populations |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 135851081 |
| Gene | MCM6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41380347 |
| dbSNP (classic) | rs41380347 |
| ClinGen | rs41380347 |
| ebi | rs41380347 |
| HLI | rs41380347 |
| Exac | rs41380347 |
| Gnomad | rs41380347 |
| Varsome | rs41380347 |
| LitVar | rs41380347 |
| Map | rs41380347 |
| PheGenI | rs41380347 |
| Biobank | rs41380347 |
| 1000 genomes | rs41380347 |
| hgdp | rs41380347 |
| ensembl | rs41380347 |
| geneview | rs41380347 |
| scholar | rs41380347 |
| rs41380347 | |
| pharmgkb | rs41380347 |
| gwascentral | rs41380347 |
| openSNP | rs41380347 |
| 23andMe | rs41380347 |
| SNPshot | rs41380347 |
| SNPdbe | rs41380347 |
| MSV3d | rs41380347 |
| GWAS Ctlg | rs41380347 |
| Max Magnitude | 2.5 |
Also known as "C/T(-13915)", and located in the MCM6 gene but with influence on the lactase LCT gene, rs4988235 is one of several SNPs that is associated with the primary haplotype associated with hypolactasia, more commonly known as lactose intolerance in Arab Bedouin populations.
[PMID 25401983] Lactase persistence variants in Arabia and in the African Arabs.
In Arabia, lactase persistence (LP) is associated with tion -13,915*G and not, as in Europe, with -13,910*T or, as in Africa, with -13,907*G and -14,010*C. We show here that, in Arabia, -13,915*G frequency conforms to a partial clinal pattern and that this specific mutation has likely been spread from Arabia to Africa only recently from the sixth century AD onward by nomadic Arabs (Bedouins) looking for new pastures. Arabic populations in Africa that still maintain a nomadic way of life also have more -13,915*G variants and fewer sub-Saharan L-type mitochondrial DNA haplogroups; this observation matches archaeological and historical records suggesting that the migration of Arabic pastoralists was accompanied by gradual sedentarization that allowed for admixture with the local African population.
ALFRED allele frequencies for rs41380347
[PMID 20960210
] –13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1
[PMID 22572735] Lactase persistence may have an independent origin in Tibetan populations from Tibet, China
[PMID 21235777] Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.
[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 | Rs41380347(G;G) |
| Alt | Rs41380347(G;G) |
| Reference | Rs41380347(T;T) |
| Significance | Other |
| Disease | Lactase persistence |
| Variation | info |
| Gene | MCM6 |
| CLNDBN | Lactase persistence |
| Reversed | 1 |
| HGVS | NC_000002.11:g.136608651A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008127.3, |
[PMID 29063188] World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.
