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Rs182549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 possibly lactose intolerant
(C;T) 1 Can digest milk.
(T;T) 1 Can digest milk.
ReferenceGRCh38 38.1/141
Chromosome2
Position135859184
GeneMCM6
is asnp
is mentioned by
dbSNPrs182549
ebirs182549
Exacrs182549
PheGenIrs182549
hapmaprs182549
1000 genomesrs182549
hgdprs182549
ensemblrs182549
gopubmedrs182549
geneviewrs182549
scholarrs182549
googlers182549
pharmgkbrs182549
gwascentralrs182549
openSNPrs182549
23andMers182549
23andMe allrs182549
SNP Nexus

SNPshotrs182549
SNPdbers182549
MSV3drs182549
GWAS Ctlgrs182549
GMAF0.2332
Max Magnitude2
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]


OMIM601806
Desc
Variant0002
Relatedalso


[PMID 22572735] Lactase persistence may have an independent origin in Tibetan populations from Tibet, China

[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.

[PMID 19326473OA-icon.png] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.

[PMID 19668368OA-icon.png] Ancestry analysis in the 11-M Madrid bomb attack investigation.

[PMID 20031626OA-icon.png] Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.


[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 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,