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: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs756434709
rs756434709
NOTCH1
2 9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2011 2011