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: rs28942088
rs28942088
ACTR1A ; SUFU
1 1.000 0.040 10 102504196 missense variant C/T snv 0.700 0
dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
1 1.000 0.040 10 102504263 frameshift variant C/- del 0.700 0
dbSNP: rs1554840869
rs1554840869
ACTR1A ; SUFU
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564654588
rs1564654588
ACTR1A ; SUFU
2 0.925 0.160 10 102504327 stop gained A/T snv 0.700 0
dbSNP: rs1554841447
rs1554841447
SUFU
2 0.925 0.160 10 102509168 splice acceptor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1060501108
rs1060501108
SUFU
2 0.925 0.160 10 102549993 frameshift variant G/- del 0.700 0
dbSNP: rs1060501109
rs1060501109
SUFU
2 0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1564676479
rs1564676479
SUFU
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1554852279
rs1554852279
SUFU
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012
dbSNP: rs1564698683
rs1564698683
SUFU
2 0.925 0.160 10 102597207 stop gained G/A snv 0.700 0
dbSNP: rs1477199832
rs1477199832
SUFU
2 0.925 0.160 10 102597223 frameshift variant -/C delins 0.700 0
dbSNP: rs1564698850
rs1564698850
SUFU
2 0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 0.700 0
dbSNP: rs587776578
rs587776578
SUFU
3 0.882 0.160 10 102599545 splice donor variant G/A;C snv 0.700 1.000 3 2011 2014
dbSNP: rs1060501105
rs1060501105
SUFU
2 0.925 0.160 10 102615266 splice acceptor variant A/T snv 0.700 0
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs387906238
rs387906238
APC
2 0.925 0.120 5 112819224 frameshift variant AA/- del 0.010 1.000 1 2007 2007
dbSNP: rs1291513037
rs1291513037
APC
1 1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs878853445
rs878853445
APC
1 1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13306747
rs13306747
PPARG
6 0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2020 2020