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: rs587778569
rs587778569
NOTCH1
1 1.000 9 136505674 stop gained C/A;T snv 2.1E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs771590616
rs771590616
NOTCH1
1 1.000 9 136515976 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2018 2018