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: rs557319054
rs557319054
NOTCH1
1 1.000 0.040 9 136502086 missense variant G/A;T snv 8.1E-06; 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs61751489
rs61751489
NOTCH1
1 1.000 0.040 9 136496886 missense variant C/T snv 3.1E-02 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs61755997
rs61755997
NOTCH1
2 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.010 1.000 1 2006 2006