rs587781353

Orientation

plus

Stabilized

plus

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

Make rs587781353(AA;AA)

Make rs587781353(AA;TG)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

108345889

Gene	ATM, C11orf65

is a	snp
is	mentioned by
dbSNP	rs587781353
dbSNP (classic)	rs587781353
ClinGen	rs587781353
ebi	rs587781353
HLI	rs587781353
Exac	rs587781353
Gnomad	rs587781353
Varsome	rs587781353
LitVar	rs587781353
Map	rs587781353
PheGenI	rs587781353
Biobank	rs587781353
1000 genomes	rs587781353
hgdp	rs587781353
ensembl	rs587781353
geneview	rs587781353
scholar	rs587781353
google	rs587781353
pharmgkb	rs587781353
gwascentral	rs587781353
openSNP	rs587781353
23andMe	rs587781353
SNPshot	rs587781353
SNPdbe	rs587781353
MSV3d	rs587781353
GWAS Ctlg	rs587781353

Max Magnitude

0

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

ClinVar
Risk	rs587781353(AA;AA)
Alt	rs587781353(AA;AA)
Reference	Rs587781353(TG;TG)
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.108216616_108216617delTGinsAA
CLNSRC
CLNACC	RCV000129137.5, RCV000235111.2, RCV000456994.1,