Gene: NOTCH2 ×
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: rs111033632
rs111033632
NOTCH2
2 0.925 0.120 1 119967555 missense variant C/T snv 0.700 0
dbSNP: rs312262793
rs312262793
NOTCH2
1 1.000 0.120 1 119968224 missense variant A/G snv 0.700 0
dbSNP: rs312262794
rs312262794
NOTCH2
1 1.000 0.120 1 119968161 missense variant G/A snv 0.700 0
dbSNP: rs312262795
rs312262795
NOTCH2
1 1.000 0.120 1 119968194 missense variant G/A snv 0.700 0
dbSNP: rs312262798
rs312262798
NOTCH2
2 0.925 0.120 1 119917763 splice acceptor variant C/T snv 0.700 0
dbSNP: rs312262799
rs312262799
NOTCH2
1 1.000 0.120 1 119967448 missense variant A/G snv 0.700 0
dbSNP: rs312262800
rs312262800
NOTCH2
1 1.000 0.120 1 119949039 frameshift variant TC/- delins 0.700 0
dbSNP: rs312262801
rs312262801
NOTCH2
1 1.000 0.120 1 119917685 stop gained G/A;C;T snv 5.2E-05; 1.2E-05 0.700 0