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: rs104893646
rs104893646
MYCN
1 1.000 0.320 2 15945880 missense variant G/A snv 0.800 1.000 3 2005 2008
dbSNP: rs104893648
rs104893648
MYCN
4 0.882 0.320 2 15945883 missense variant G/A;T snv 0.800 1.000 3 2005 2008
dbSNP: rs104893647
rs104893647
MYCN
1 1.000 0.320 2 15945879 missense variant C/A snv 0.800 1.000 2 2005 2006
dbSNP: rs759103701
rs759103701
MYCN
4 0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2005 2008
dbSNP: rs754137452
rs754137452
MYCN
1 1.000 0.320 2 15945819 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs113994115
rs113994115
MYCN ; MYCNOS
1 1.000 0.320 2 15942281 stop gained G/T snv 0.700 0
dbSNP: rs121913666
rs121913666
MYCN
1 1.000 0.320 2 15945847 missense variant G/A snv 0.700 0
dbSNP: rs1553370260
rs1553370260
MYCN ; MYCNOS
4 0.925 0.320 2 15942129 frameshift variant -/CGCT delins 0.700 0
dbSNP: rs1553370918
rs1553370918
MYCN
6 0.851 0.360 2 15945602 frameshift variant TG/- delins 0.700 0
dbSNP: rs1553370963
rs1553370963
MYCN
1 1.000 0.320 2 15945762 frameshift variant -/C delins 0.700 0
dbSNP: rs1558534266
rs1558534266
MYCN ; MYCNOS
1 1.000 0.320 2 15942686 frameshift variant -/C delins 0.700 0
dbSNP: rs367962377
rs367962377
MYCN
2 1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05 0.700 0