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: rs1555919960
rs1555919960
BCOR
1 1.000 0.040 X 40074947 frameshift variant -/GT ins 0.700 0
dbSNP: rs780712297
rs780712297
BCOR
1 1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs121908390
rs121908390
CYLD ; LOC105371251
8 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587778223
rs587778223
CYLD ; LOC105371251
2 0.925 0.120 16 50784435 missense variant G/A snv 3.2E-05 2.1E-05 0.010 1.000 1 2015 2015