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rs1060503017

From SNPedia

ClinVar
Risk rs1060503017(-;-)
Alt rs1060503017(-;-)
Reference Rs1060503017(GAAGACCT;GAAGACCT)
Significance Pathogenic
Disease Rhabdoid tumor predisposition syndrome 1 Schwannomatosis
Variation info
Gene SMARCB1
CLNDBN Rhabdoid tumor predisposition syndrome 1 Schwannomatosis
Reversed 0
HGVS NC_000022.10:g.24167585_24167592delGAAGACCT
CLNSRC
CLNACC RCV000464666.1,