rs750616657

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TGAT)	6	Breast cancer associated mutation

Make rs750616657(TGAT;TGAT)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

28719413

Gene

CHEK2

is a	snp
is	mentioned by
dbSNP	rs750616657
dbSNP (classic)	rs750616657
ClinGen	rs750616657
ebi	rs750616657
HLI	rs750616657
Exac	rs750616657
Gnomad	rs750616657
Varsome	rs750616657
LitVar	rs750616657
Map	rs750616657
PheGenI	rs750616657
Biobank	rs750616657
1000 genomes	rs750616657
hgdp	rs750616657
ensembl	rs750616657
geneview	rs750616657
scholar	rs750616657
google	rs750616657
pharmgkb	rs750616657
gwascentral	rs750616657
openSNP	rs750616657
23andMe	rs750616657
SNPshot	rs750616657
SNPdbe	rs750616657
MSV3d	rs750616657
GWAS Ctlg	rs750616657

Max Magnitude

6

aka c.661_664dup

ClinVar
Risk	rs750616657(TGAT;TGAT)
Alt	rs750616657(TGAT;TGAT)
Reference	Rs750616657(-;-)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome
Variation	info
Gene	CHEK2
CLNDBN	Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000022.10:g.29115402_29115405dupTGAT
CLNSRC
CLNACC	RCV000164995.1,