Gene: NOTCH1 ×
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: rs1564191302
rs1564191302
NOTCH1
1 1.000 9 136505825 stop gained G/T snv 0.700 0
dbSNP: rs1564199476
rs1564199476
NOTCH1
1 1.000 9 136517797 frameshift variant T/- del 0.700 0