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: rs1057515422
rs1057515422
NOTCH1
1 1.000 0.080 9 136513049 stop gained G/C snv 0.700 1.000 2 2005 2016
dbSNP: rs1057515423
rs1057515423
NOTCH1
1 1.000 0.080 9 136506852 stop gained G/T snv 0.700 1.000 2 2005 2016
dbSNP: rs1057518661
rs1057518661
NOTCH1
1 1.000 0.080 9 136497391 stop gained G/C snv 0.700 0
dbSNP: rs41309764
rs41309764
NOTCH1
1 1.000 0.080 9 136508238 stop gained G/A snv 0.700 0
dbSNP: rs41309766
rs41309766
NOTCH1
1 1.000 0.080 9 136505384 frameshift variant G/- del 0.700 0
dbSNP: rs61755997
rs61755997
NOTCH1
2 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs863224901
rs863224901
NOTCH1
1 1.000 0.080 9 136513108 frameshift variant C/- del 0.700 0