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: rs587782490
rs587782490
TP53
1 17 7676030 frameshift variant GCCCAGACGGAA/- delins 0.700 1.000 5 1998 2014
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
1 11 108365382 frameshift variant AACTGAAAGGA/- delins 0.700 1.000 5 2003 2017
dbSNP: rs63750647
rs63750647
MSH6 ; FBXO11
1 2 47800283 inframe deletion CCT/- delins 0.700 1.000 5 2007 2014
dbSNP: rs730881973
rs730881973
STK11
1 19 1220451 missense variant C/A;G snv 0.700 1.000 5 1999 2013
dbSNP: rs755047928
rs755047928
SDHD
1 11 112088906 missense variant G/A;T snv 4.0E-06 0.700 1.000 5 2008 2015
dbSNP: rs786201085
rs786201085
SDHB
1 1 17022615 missense variant C/T snv 0.700 1.000 5 2005 2012
dbSNP: rs786202517
rs786202517
PTEN
1 10 87894050 missense variant GG/AC mnv 0.700 1.000 5 1998 2011
dbSNP: rs80356905
rs80356905
BRCA1
1 17 43051113 missense variant A/C;G snv 0.700 1.000 5 2000 2010
dbSNP: rs876660375
rs876660375
APC
1 5 112844108 stop gained C/A;G snv 0.700 1.000 5 2000 2014
dbSNP: rs876660642
rs876660642
SDHB
1 1 17022660 frameshift variant A/- delins 4.0E-06 0.700 1.000 5 2005 2015
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
1 11 108333941 inframe deletion TGT/- delins 0.700 1.000 5 1999 2011
dbSNP: rs1057517610
rs1057517610
BMPR1A
1 10 86890164 missense variant C/G snv 4.0E-06 0.700 1.000 4 2004 2013
dbSNP: rs1131690818
rs1131690818
CDH1
1 16 68819430 splice region variant G/A snv 0.700 1.000 4 2004 2013
dbSNP: rs1131690951
rs1131690951
STK11
1 19 1218501 splice donor variant A/G snv 0.700 1.000 4 2002 2007
dbSNP: rs1131690962
rs1131690962
VHL
1 3 10149829 missense variant T/C snv 0.700 1.000 4 2000 2015
dbSNP: rs1131691118
rs1131691118
NF1
1 17 31200595 missense variant G/A;C snv 0.700 1.000 4 2000 2008
dbSNP: rs118203477
rs118203477
TSC1
1 9 132911493 frameshift variant AG/- delins 0.700 1.000 4 1997 2007
dbSNP: rs1554826052
rs1554826052
PTEN
1 10 87965387 frameshift variant -/AT ins 0.700 1.000 4 1999 2014
dbSNP: rs1554888310
rs1554888310
BMPR1A
1 10 86892141 missense variant G/T snv 0.700 1.000 4 2002 2013
dbSNP: rs376280361
rs376280361
STK11
1 19 1221997 missense variant G/A;C snv 3.9E-05 0.700 1.000 4 1998 2009
dbSNP: rs5030825
rs5030825
VHL
1 3 10149906 stop gained C/T snv 0.700 1.000 4 1994 2013
dbSNP: rs587779220
rs587779220
MSH6 ; FBXO11
1 2 47799737 missense variant T/C snv 0.700 1.000 4 2007 2015
dbSNP: rs587780068
rs587780068
TP53
1 17 7675140 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 4 2003 2017
dbSNP: rs587782114
rs587782114
ATM ; C11orf65
1 11 108317500 stop gained G/A snv 0.700 1.000 4 2008 2015
dbSNP: rs63751004
rs63751004
MSH2
1 2 47416365 missense variant G/A;C snv 0.700 1.000 4 2006 2013