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: rs372670098
rs372670098
CDKN2A
1 9 21971153 missense variant T/C snv 9.5E-06 2.8E-05 0.700 1.000 12 1998 2015
dbSNP: rs80359075
rs80359075
BRCA2
2 1.000 13 32370420 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 12 2002 2018
dbSNP: rs267606999
rs267606999
RAD51C
3 0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05 0.700 1.000 11 2010 2017
dbSNP: rs786203457
rs786203457
SDHC
1 1 161356815 missense variant A/G snv 7.0E-06 0.700 1.000 11 2009 2018
dbSNP: rs587782792
rs587782792
CDKN2A
1 9 21971108 missense variant T/G snv 0.700 1.000 10 1998 2014
dbSNP: rs80357074
rs80357074
BRCA1
1 17 43057075 missense variant C/G;T snv 0.700 1.000 10 1998 2011
dbSNP: rs80359026
rs80359026
BRCA2
2 1.000 13 32362692 missense variant A/G snv 0.700 1.000 10 2005 2017
dbSNP: rs80359083
rs80359083
BRCA2
1 13 32370448 missense variant G/A;T snv 0.700 1.000 9 2008 2018
dbSNP: rs587778189
rs587778189
CDKN2A
2 1.000 9 21974679 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 8 2002 2013
dbSNP: rs80357798
rs80357798
BRCA1
2 1.000 17 43091752 frameshift variant A/- delins 0.700 1.000 8 1995 2016
dbSNP: rs1114167551
rs1114167551
APC
1 5 112838775 frameshift variant CAAA/- delins 0.700 1.000 7 1994 2008
dbSNP: rs1131690935
rs1131690935
STK11
1 19 1221973 inframe deletion GGTTCTCCATCCGGCAGA/- delins 0.700 1.000 7 1992 2014
dbSNP: rs1554893831
rs1554893831
PTEN
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: rs200397144
rs200397144
SDHA
3 1.000 5 251427 missense variant C/G;T snv 2.4E-05; 4.0E-06 0.700 1.000 7 2011 2018
dbSNP: rs587782702
rs587782702
RAD51C
3 0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05 0.700 1.000 7 2010 2015
dbSNP: rs752309409
rs752309409
BRIP1
1 17 61808634 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 7 2010 2016
dbSNP: rs794728618
rs794728618
MEN1
1 11 64808030 missense variant T/A snv 0.700 1.000 7 1998 2016
dbSNP: rs80357442
rs80357442
BRCA1
1 17 43057077 missense variant C/A;G;T snv 3.6E-05 0.700 1.000 7 2003 2011
dbSNP: rs80358810
rs80358810
BRCA2
2 1.000 13 32326564 stop gained G/A snv 0.700 1.000 7 1996 2017
dbSNP: rs80359575
rs80359575
BRCA2
2 1.000 13 32329445 frameshift variant GA/- delins 7.0E-06 0.700 1.000 7 1999 2017
dbSNP: rs1131690858
rs1131690858
RB1
1 13 48473391 splice region variant GAGT/- delins 0.700 1.000 6 1993 2015
dbSNP: rs1554826024
rs1554826024
PTEN
1 10 87965294 missense variant T/C snv 0.700 1.000 6 1997 2013
dbSNP: rs587781410
rs587781410
RAD51C ; LOC105371843
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 6 2012 2017
dbSNP: rs63750468
rs63750468
MSH2
2 2 47416350 missense variant T/C snv 0.700 1.000 6 2000 2010