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rs587780640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATCTGGTGACTATACA) 6 Breast cancer associated mutation
(AATCTGGTGACTATAC;AATCTGGTGACTATAC) 0 common in clinvar
Make rs587780640(-;-)
Make rs587780640(-;AATCTGGTGACTATAC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108334993
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587780640
dbSNP (classic)rs587780640
ClinGenrs587780640
ebirs587780640
HLIrs587780640
Exacrs587780640
Gnomadrs587780640
Varsomers587780640
LitVarrs587780640
Maprs587780640
PheGenIrs587780640
Biobankrs587780640
1000 genomesrs587780640
hgdprs587780640
ensemblrs587780640
geneviewrs587780640
scholarrs587780640
googlers587780640
pharmgkbrs587780640
gwascentralrs587780640
openSNPrs587780640
23andMers587780640
SNPshotrs587780640
SNPdbers587780640
MSV3drs587780640
GWAS Ctlgrs587780640
Merged fromRs786202463
Max Magnitude6
ClinVar
Risk rs587780640(-;-) rs587780640(ATCTGGTGACTATACA;ATCTGGTGACTATACA)
Alt rs587780640(-;-) rs587780640(ATCTGGTGACTATACA;ATCTGGTGACTATACA)
Reference Rs587780640(AATCTGGTGACTATAC;AATCTGGTGACTATAC)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108205721_108205736del16
CLNSRC
CLNACC RCV000122885.2, RCV000165284.1,