Rs4988235

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is asnp
is mentioned by
dbSNPrs4988235
hapmaprs4988235
hgdprs4988235
ensemblrs4988235
gopubmedrs4988235
scholarrs4988235
googlers4988235
pharmgkbrs4988235
hgvbaseg2prs4988235
medrefsnprs4988235
23andMers4988235
SNP Nexus

GeneMCM6
Chromosome2
Orientationminus
Position136325115
GenotypeEffect
rs4988235(C;C)possibly lactose intolerant
rs4988235(C;T)can digest milk
rs4988235(T;T)can digest milk


Genotypes Magnitude Summary
Rs4988235(C;C) 1.11.1 possibly lactose intolerant
Rs4988235(C;T) can digest milk
Rs4988235(T;T) can digest milk
Also known as "C/T(-13910)", and located in the MCM6 gene but with influence on the lactase LCT gene, rs4988235 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 rs4988235(T) allele is both the more common allele and the one associated with lactase persistence; individuals who are rs4988235(C;C) are likely to be lactose intolerant.

In populations of sub-Saharan Africans, though, the rs4988235(T) allele is so rare that it's unlikely to be predictive of lactase persistence, and other SNPs are predictive instead. [PMID 15106124, PMID 17159977]

? (C;C) (C;T) (T;T)

[PMID 20225268] The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake