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: rs1554728034
rs1554728034
NOTCH1
1 1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins 0.700 0
dbSNP: rs1554728658
rs1554728658
NOTCH1
1 1.000 0.040 9 136509877 missense variant C/T snv 0.700 0