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: rs191645600
rs191645600
NOTCH1
1 1.000 0.040 9 136505728 missense variant G/T snv 5.8E-04 6.0E-04 0.010 1.000 1 2007 2007