Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060503016
rs1060503016
SMARCB1
2 0.925 0.240 22 23791814 stop gained G/A snv 0.700 0
dbSNP: rs1060503017
rs1060503017
SMARCB1
2 0.925 0.240 22 23825398 frameshift variant GAAGACCT/- del 0.700 0