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rs1049174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) normal
(C;G) 0.77x reduced risk for colorectal cancer
(G;G) 0.48x reduced risk for colorectal cancer
ReferenceGRCh38 38.1/141
Chromosome12
Position10372766
GeneKLRC4-KLRK1, KLRK1
is asnp
is mentioned by
dbSNPrs1049174
ebirs1049174
HLIrs1049174
Exacrs1049174
Varsomers1049174
Maprs1049174
PheGenIrs1049174
hapmaprs1049174
1000 genomesrs1049174
hgdprs1049174
ensemblrs1049174
gopubmedrs1049174
geneviewrs1049174
scholarrs1049174
googlers1049174
pharmgkbrs1049174
gwascentralrs1049174
openSNPrs1049174
23andMers1049174
23andMe allrs1049174
SNP Nexus

SNPshotrs1049174
SNPdbers1049174
MSV3drs1049174
GWAS Ctlgrs1049174
GMAF0.4348
Max Magnitude
? (C;C) (C;G) (G;G) 28

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