PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Disease: Medulloblastoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs56126236
rs56126236 		0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0