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rs864622576

From SNPedia

ClinVar
Risk rs864622576(;)
Alt rs864622576(;)
Reference rs864622576(AG;AG)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108202681_108202682delGA
CLNSRC
CLNACC RCV000204947.2, RCV000214581.1,