rs587782403

Orientation

plus

Stabilized

plus

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

Make rs587782403(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

108327643

Gene	ATM, C11orf65

is a	snp
is	mentioned by
dbSNP	rs587782403
dbSNP (classic)	rs587782403
ClinGen	rs587782403
ebi	rs587782403
HLI	rs587782403
Exac	rs587782403
Gnomad	rs587782403
Varsome	rs587782403
LitVar	rs587782403
Map	rs587782403
PheGenI	rs587782403
Biobank	rs587782403
1000 genomes	rs587782403
hgdp	rs587782403
ensembl	rs587782403
geneview	rs587782403
scholar	rs587782403
google	rs587782403
pharmgkb	rs587782403
gwascentral	rs587782403
openSNP	rs587782403
23andMe	rs587782403
SNPshot	rs587782403
SNPdbe	rs587782403
MSV3d	rs587782403
GWAS Ctlg	rs587782403

Max Magnitude

6

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

ClinVar
Risk	rs587782403(C;C)
Alt	rs587782403(C;C)
Reference	Rs587782403(A;A)
Significance	Probable-Pathogenic
Disease	Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome
Variation	info
Gene	C11orf65 ATM
CLNDBN	Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome
Reversed	0
HGVS	NC_000011.9:g.108198370A>C
CLNSRC
CLNACC	RCV000131437.6, RCV000212053.2, RCV000228133.2,