rs72552322

Orientation

minus

Stabilized

minus

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

Make rs72552322(A;A)

Make rs72552322(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

28725070

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs72552322
dbSNP (classic)	rs72552322
ClinGen	rs72552322
ebi	rs72552322
HLI	rs72552322
Exac	rs72552322
Gnomad	rs72552322
Varsome	rs72552322
LitVar	rs72552322
Map	rs72552322
PheGenI	rs72552322
Biobank	rs72552322
1000 genomes	rs72552322
hgdp	rs72552322
ensembl	rs72552322
geneview	rs72552322
scholar	rs72552322
google	rs72552322
pharmgkb	rs72552322
gwascentral	rs72552322
openSNP	rs72552322
23andMe	rs72552322
SNPshot	rs72552322
SNPdbe	rs72552322
MSV3d	rs72552322
GWAS Ctlg	rs72552322

Max Magnitude

0

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

ClinVar
Risk	rs72552322(A;A)
Alt	rs72552322(A;A)
Reference	Rs72552322(G;G)
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	1
HGVS	NC_000022.10:g.29121058C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000131700.7, RCV000200030.3, RCV000210071.1, RCV000212424.2,