rs17879961

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(T;T)	0	common in clinvar

Make rs17879961(C;C)

Make rs17879961(C;T)

Reference

GRCh38 38.1/142

Chromosome

22

Position

28725099

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs17879961
dbSNP (classic)	rs17879961
ClinGen	rs17879961
ebi	rs17879961
HLI	rs17879961
Exac	rs17879961
Gnomad	rs17879961
Varsome	rs17879961
LitVar	rs17879961
Map	rs17879961
PheGenI	rs17879961
Biobank	rs17879961
1000 genomes	rs17879961
hgdp	rs17879961
ensembl	rs17879961
geneview	rs17879961
scholar	rs17879961
google	rs17879961
pharmgkb	rs17879961
gwascentral	rs17879961
openSNP	rs17879961
23andMe	rs17879961
SNPshot	rs17879961
SNPdbe	rs17879961
MSV3d	rs17879961
GWAS Ctlg	rs17879961

GMAF

0.002296

Max Magnitude

0

?	(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

OMIM	604373
Desc
Variant	0002
Related	also

ClinVar
Risk	rs17879961(C;C) rs17879961(G;G)
Alt	rs17879961(C;C) rs17879961(G;G)
Reference	Rs17879961(T;T)
Significance	Other
Disease	not provided 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
Variation	info
Gene	CHEK2
CLNDBN	not provided 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
Reversed	1
HGVS	NC_000022.10:g.29121087A>C; NC_000022.10:g.29121087A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000255649.1, RCV000005936.2, RCV000005937.2, RCV000005938.2, RCV000005939.2, RCV000116018.9, RCV000120555.1, RCV000144596.4, RCV000210131.1, RCV000212410.2,

[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 24880342]
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 25798211] The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population