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rs1057516540

From SNPedia

ClinVar
Risk rs1057516540(-;-)
Alt rs1057516540(-;-)
Reference Rs1057516540(TTTCTAGT;TTTCTAGT)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108173576_108173583delCTAGTTTT
CLNSRC
CLNACC RCV000409046.1,