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: rs761508282
rs761508282
NOTCH1
2 1.000 0.080 9 136508288 missense variant G/C snv 8.1E-06 2.1E-05 0.010 1.000 1 2013 2013