rs141568342

Orientation

plus

Stabilized

plus

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

Make rs141568342(C;T)

Make rs141568342(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

28734532

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs141568342
dbSNP (classic)	rs141568342
ClinGen	rs141568342
ebi	rs141568342
HLI	rs141568342
Exac	rs141568342
Gnomad	rs141568342
Varsome	rs141568342
LitVar	rs141568342
Map	rs141568342
PheGenI	rs141568342
Biobank	rs141568342
1000 genomes	rs141568342
hgdp	rs141568342
ensembl	rs141568342
geneview	rs141568342
scholar	rs141568342
google	rs141568342
pharmgkb	rs141568342
gwascentral	rs141568342
openSNP	rs141568342
23andMe	rs141568342
SNPshot	rs141568342
SNPdbe	rs141568342
MSV3d	rs141568342
GWAS Ctlg	rs141568342

Max Magnitude

0

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

ClinVar
Risk	rs141568342(T;T)
Alt	rs141568342(T;T)
Reference	Rs141568342(C;C)
Significance	Probable-Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer not provided
Variation	info
Gene	CHEK2
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided
Reversed	0
HGVS	NC_000022.10:g.29130520C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116009.8, RCV000199067.3, RCV000210191.1, RCV000212407.2,