Rs1049174

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is asnp
is mentioned by
dbSNPrs1049174
hapmaprs1049174
hgdprs1049174
ensemblrs1049174
gopubmedrs1049174
scholarrs1049174
googlers1049174
pharmgkbrs1049174
hgvbaseg2prs1049174
medrefsnprs1049174
23andMers1049174
SNP Nexus

GeneKLRK1
Chromosome12
Orientationminus
Position10416631
GenotypeEffect
rs1049174(C;C)normal
rs1049174(C;G)0.77x reduced risk for colorectal cancer
rs1049174(G;G)0.48x reduced risk for colorectal cancer


Genotypes Magnitude Summary
Rs1049174(C;C) normal
Rs1049174(C;G) 0.77x reduced risk for colorectal cancer
Rs1049174(G;G) 0.48x reduced risk for colorectal cancer

High- and low-natural killer (NK) activity levels have been associated with haplotypes of the KLRK1 gene defined by SNP rs1049174. The high NK (HNK) haplotype appears to have a protective effect (i.e. a reduced risk) for colorectal cancer based on a study of 379 Japanese patients.[PMID 18174257]

Note: HNK is reported to be associated with the rs1049174(G) allele, and LNK with the (C) allele, in at least two publications [PMID 16397273, PMID 18174257]. However, the orientation relative to dbSNP should be considered ambiguous until confirmed.

rs1049174 is also reported to be in complete (100%) linkage with four other SNPs, which could therefore equally define the HNK/LNK haplotype; they are:

  • rs2617160: reported as T>HNK, C>LNK, but this disagrees with dbSNP
  • rs2617170: reported as A>HNK, T>LNK, but this disagrees with dbSNP; maybe rs2617160 and 2617170 were swapped in manuscript accidentally (?)
  • rs2617171: reported as G>HNK, C>LNK
  • rs1982526: reported as G>HNK, C>LNK
? (C;C) (C;G) (G;G)