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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1554728658
rs1554728658
NOTCH1
1 1.000 0.040 9 136509877 missense variant C/T snv 0.700 0
dbSNP: rs1554728034
rs1554728034
NOTCH1
1 1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins 0.700 0
dbSNP: rs1555913337
rs1555913337
BCOR
1 1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 0.700 0
dbSNP: rs1555919960
rs1555919960
BCOR
1 1.000 0.040 X 40074947 frameshift variant -/GT ins 0.700 0