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rs17879961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs17879961(C;C)
Make rs17879961(C;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position28725099
GeneCHEK2
is asnp
is mentioned by
dbSNPrs17879961
ebirs17879961
HLIrs17879961
Exacrs17879961
Varsomers17879961
Maprs17879961
PheGenIrs17879961
hapmaprs17879961
1000 genomesrs17879961
hgdprs17879961
ensemblrs17879961
gopubmedrs17879961
geneviewrs17879961
scholarrs17879961
googlers17879961
pharmgkbrs17879961
gwascentralrs17879961
openSNPrs17879961
23andMers17879961
23andMe allrs17879961
SNP Nexus

SNPshotrs17879961
SNPdbers17879961
MSV3drs17879961
GWAS Ctlgrs17879961
GMAF0.002296
Max Magnitude0
? (C;C) (C;T) (T;T) 28
This SNP, a variant in the CHEK2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (C).

[PMID 18086781] rs17879961 one of 3 SNPs associated with increased risk of lung cancer

OMIM604373
Desc
Variant0002
Relatedalso


ClinVar
Risk rs17879961(C;C)
Alt rs17879961(C;C)
Reference rs17879961(T;T)
Significance Other
Disease Li-Fraumeni syndrome 2 Colorectal cancer Cancer of multiple types Prostate cancer Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Breast and colorectal cancer not provided
Variation info
Gene CHEK2
CLNDBN Li-Fraumeni syndrome 2 Colorectal cancer, susceptibility to Cancer of multiple types, susceptibility to Prostate cancer, susceptibility to Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided
Reversed 1
HGVS NC_000022.10:g.29121087A>G
CLNSRC Inc. OMIM Allelic Variant
CLNACC RCV000005936.2, RCV000005937.2, RCV000005938.2, RCV000005939.2, RCV000116018.7, RCV000120555.1, RCV000144596.3, RCV000210131.1, RCV000212410.1,



[PMID 17517688] Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case control study.


[PMID 19442246] The associations of sequence variants in DNA-repair and cell-cycle genes with cancer risk: genotype-phenotype correlations.

GWAS snp
PMID [PMID 24880342OA-icon.png]
Trait Lung cancer
Title Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Risk Allele A
P-val 3E-11
Odds Ratio 1.67 [1.43-1.92]


[PMID 25798211OA-icon.png] The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population