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: rs372670098
rs372670098
1 9 21971153 missense variant T/C snv 9.5E-06 2.8E-05 0.700 1.000 12 1998 2015
dbSNP: rs786203457
rs786203457
1 1 161356815 missense variant A/G snv 7.0E-06 0.700 1.000 11 2009 2018
dbSNP: rs587782792
rs587782792
1 9 21971108 missense variant T/G snv 0.700 1.000 10 1998 2014
dbSNP: rs80357074
rs80357074
1 17 43057075 missense variant C/G;T snv 0.700 1.000 10 1998 2011
dbSNP: rs80359083
rs80359083
1 13 32370448 missense variant G/A;T snv 0.700 1.000 9 2008 2018
dbSNP: rs1114167551
rs1114167551
APC
1 5 112838775 frameshift variant CAAA/- delins 0.700 1.000 7 1994 2008
dbSNP: rs1131690935
rs1131690935
1 19 1221973 inframe deletion GGTTCTCCATCCGGCAGA/- delins 0.700 1.000 7 1992 2014
dbSNP: rs1554893831
rs1554893831
1 10 87894102 inframe deletion GTA/- delins 0.700 1.000 7 1999 2015
dbSNP: rs1555618656
rs1555618656
NF1
1 17 31259069 missense variant A/G snv 0.700 1.000 7 1996 2013
dbSNP: rs752309409
rs752309409
1 17 61808634 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 7 2010 2016
dbSNP: rs794728618
rs794728618
1 11 64808030 missense variant T/A snv 0.700 1.000 7 1998 2016
dbSNP: rs80357442
rs80357442
1 17 43057077 missense variant C/A;G;T snv 3.6E-05 0.700 1.000 7 2003 2011
dbSNP: rs1131690858
rs1131690858
RB1
1 13 48473391 splice region variant GAGT/- delins 0.700 1.000 6 1993 2015
dbSNP: rs1554826024
rs1554826024
1 10 87965294 missense variant T/C snv 0.700 1.000 6 1997 2013
dbSNP: rs775464903
rs775464903
1 2 47478381 missense variant A/G;T snv 1.2E-05 0.700 1.000 6 2006 2017
dbSNP: rs775899653
rs775899653
1 11 108343231 frameshift variant TCTC/-;TC delins 0.700 1.000 6 1996 2009
dbSNP: rs80359066
rs80359066
1 13 32363390 missense variant G/C;T snv 2.8E-05 0.700 1.000 6 2002 2019
dbSNP: rs1114167583
rs1114167583
APC
1 5 112839342 frameshift variant AA/- delins 0.700 1.000 5 1992 2005
dbSNP: rs1114167664
rs1114167664
1 10 87957970 missense variant GT/TG mnv 0.700 1.000 5 1999 2016
dbSNP: rs118203564
rs118203564
1 9 132905869 frameshift variant CT/- del 0.700 1.000 5 1997 2008
dbSNP: rs1553620318
rs1553620318
VHL
1 3 10149810 missense variant C/T snv 0.700 1.000 5 2004 2016
dbSNP: rs1554088762
rs1554088762
APC
1 5 112843524 frameshift variant TTAT/- delins 0.700 1.000 5 1992 2015
dbSNP: rs267607978
rs267607978
1 2 47475077 inframe deletion TGT/- delins 0.700 1.000 5 2004 2012
dbSNP: rs397509243
rs397509243
1 17 43057086 missense variant C/A;T snv 0.700 1.000 5 1975 2016
dbSNP: rs587782386
rs587782386
1 2 47800909 missense variant C/T snv 7.0E-06 0.700 1.000 5 2002 2015