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rs41380347

From SNPedia

Lactase persistence, also known as "-13915*G" common in Arab populations
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 2.5 Lactase persistence
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome2
Position135851081
GeneMCM6
is asnp
is mentioned by
dbSNPrs41380347
ClinGenrs41380347
ebirs41380347
HLIrs41380347
Exacrs41380347
Varsomers41380347
Maprs41380347
PheGenIrs41380347
hapmaprs41380347
1000 genomesrs41380347
hgdprs41380347
ensemblrs41380347
gopubmedrs41380347
geneviewrs41380347
scholarrs41380347
googlers41380347
pharmgkbrs41380347
gwascentralrs41380347
openSNPrs41380347
23andMers41380347
23andMe allrs41380347
SNP Nexus

SNPshotrs41380347
SNPdbers41380347
MSV3drs41380347
GWAS Ctlgrs41380347
Max Magnitude2.5

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 20960210OA-icon.png] –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 21235777OA-icon.png] Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.


[PMID 23028602OA-icon.png] Lactase persistence and lipid pathway selection in the Maasai.


[PMID 23029545OA-icon.png] 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,