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: rs139994842
rs139994842
NOTCH1
3 0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 0.010 1.000 1 2016 2016