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: rs80358807
rs80358807
BRCA2
10 0.763 0.280 13 32340146 stop gained C/T snv 0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 0.700 0
dbSNP: rs80358893
rs80358893
BRCA2
10 0.763 0.320 13 32341011 stop gained C/G snv 0.700 0
dbSNP: rs80358920
rs80358920
BRCA2
14 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 0
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 0
dbSNP: rs80359031
rs80359031
BRCA2
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 0
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 0
dbSNP: rs80359212
rs80359212
BRCA2
11 0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
1 1.000 0.040 10 102504263 frameshift variant C/- del 0.700 0
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.810 1.000 5 2000 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 3 2000 2016
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2003 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2003 2012
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: rs1564676479
rs1564676479
SUFU
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 2 2009 2012
dbSNP: rs28931588
rs28931588
CTNNB1
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 2 2014 2016
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.020 1.000 2 2010 2011
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2003 2012
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016