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 0.800 1.000 1 2006 2006
dbSNP: rs1557804111
rs1557804111
NOTCH2
1 1.000 0.120 1 119920277 stop gained 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