rs121908702

Orientation

minus

Stabilized

minus

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

Make rs121908702(A;A)

Make rs121908702(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

28711986

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs121908702
dbSNP (classic)	rs121908702
ClinGen	rs121908702
ebi	rs121908702
HLI	rs121908702
Exac	rs121908702
Gnomad	rs121908702
Varsome	rs121908702
LitVar	rs121908702
Map	rs121908702
PheGenI	rs121908702
Biobank	rs121908702
1000 genomes	rs121908702
hgdp	rs121908702
ensembl	rs121908702
geneview	rs121908702
scholar	rs121908702
google	rs121908702
pharmgkb	rs121908702
gwascentral	rs121908702
openSNP	rs121908702
23andMe	rs121908702
SNPshot	rs121908702
SNPdbe	rs121908702
MSV3d	rs121908702
GWAS Ctlg	rs121908702

Max Magnitude

6

OMIM	604373
Desc
Variant	0010
Related	also

OMIM	604373
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908702(A;A) rs121908702(T;T)
Alt	rs121908702(A;A) rs121908702(T;T)
Reference	Rs121908702(G;G)
Significance	Pathogenic
Disease	Prostate cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast not specified
Variation	info
Gene	CHEK2
CLNDBN	Prostate cancer, somatic Hereditary cancer-predisposing syndrome not provided Familial cancer of breast not specified
Reversed	1
HGVS	NC_000022.10:g.29107974C>A; NC_000022.10:g.29107974C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005947.5, RCV000166320.2, RCV000005948.5, RCV000114762.1, RCV000131201.6, RCV000205850.3, RCV000212434.3,

[PMID 12533788] Mutations in CHEK2 associated with prostate cancer risk.