Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564032829
rs1564032829
PTCH1 ; LOC100507346
0.925 0.160 9 95468757 frameshift variant T/- delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 0