rs137853007

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Breast cancer associated mutation

Make rs137853007(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

28725254

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs137853007
dbSNP (classic)	rs137853007
ClinGen	rs137853007
ebi	rs137853007
HLI	rs137853007
Exac	rs137853007
Gnomad	rs137853007
Varsome	rs137853007
LitVar	rs137853007
Map	rs137853007
PheGenI	rs137853007
Biobank	rs137853007
1000 genomes	rs137853007
hgdp	rs137853007
ensembl	rs137853007
geneview	rs137853007
scholar	rs137853007
google	rs137853007
pharmgkb	rs137853007
gwascentral	rs137853007
openSNP	rs137853007
23andMe	rs137853007
SNPshot	rs137853007
SNPdbe	rs137853007
MSV3d	rs137853007
GWAS Ctlg	rs137853007

Max Magnitude

6

OMIM	604373
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137853007(A;A) rs137853007(T;T)
Alt	rs137853007(A;A) rs137853007(T;T)
Reference	Rs137853007(C;C)
Significance	Pathogenic
Disease	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast CHEK2-Related Cancer Susceptibility
Variation	info
Gene	CHEK2
CLNDBN	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast CHEK2-Related Cancer Susceptibility
Reversed	1
HGVS	NC_000022.10:g.29121242G>A; NC_000022.10:g.29121242G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005940.2, RCV000116016.8, RCV000120554.1, RCV000197612.4, RCV000381571.1, RCV000436224.1,