rs142763740

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs142763740(A;A)

Make rs142763740(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

28694066

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs142763740
dbSNP (classic)	rs142763740
ClinGen	rs142763740
ebi	rs142763740
HLI	rs142763740
Exac	rs142763740
Gnomad	rs142763740
Varsome	rs142763740
LitVar	rs142763740
Map	rs142763740
PheGenI	rs142763740
Biobank	rs142763740
1000 genomes	rs142763740
hgdp	rs142763740
ensembl	rs142763740
geneview	rs142763740
scholar	rs142763740
google	rs142763740
pharmgkb	rs142763740
gwascentral	rs142763740
openSNP	rs142763740
23andMe	rs142763740
SNPshot	rs142763740
SNPdbe	rs142763740
MSV3d	rs142763740
GWAS Ctlg	rs142763740

Max Magnitude

0

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]

Ancestry v2 data almost always shows the (A;A) genotype for this SNP in their user's data, though, so that's clearly incorrect.

ClinVar
Risk	rs142763740(A;A)
Alt	rs142763740(A;A)
Reference	Rs142763740(G;G)
Significance	Probable-Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer not provided Colorectal cancer Neoplasm of breast
Variation	info
Gene	CHEK2
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided Colorectal cancer Neoplasm of breast
Reversed	0
HGVS	NC_000022.10:g.29090054G>A
CLNSRC
CLNACC	RCV000116001.8, RCV000198554.4, RCV000210077.1, RCV000212465.3, RCV000259876.1, RCV000317389.1,