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: rs1554728529
rs1554728529
NOTCH1
3 1.000 9 136508989 frameshift variant A/- del 0.700 1.000 19 1999 2019