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: rs3814113
rs3814113 		5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.820 1.000 5 2009 2013
dbSNP: rs4691139
rs4691139 		2 1.000 0.120 4 164987569 non coding transcript exon variant A/G;T snv 0.800 1.000 2 2013 2017
dbSNP: rs17631303
rs17631303
PLEKHM1
2 1.000 0.120 17 45439036 intron variant A/G snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs183211
rs183211
NSF ; LRRC37A2
4 0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30 0.800 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 12 2002 2015
dbSNP: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 3 2006 2010
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 4 2010 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2016 2018
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 9 2005 2011
dbSNP: rs10088218
rs10088218
LINC00824
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.710 1.000 3 2010 2013
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2005 2016
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 3 2005 2016
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 2 2016 2017
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.710 1.000 2 2017 2017
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.710 1.000 2 2010 2012
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.710 1.000 2 2010 2012
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.710 1.000 2 2016 2017
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.710 1.000 2 2010 2013
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 1 2011 2011
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.710 1.000 1 1998 1998
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.710 1.000 1 2012 2012
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 1 2017 2017
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 12 2005 2016
dbSNP: rs587781321
rs587781321
BRIP1
4 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2016
dbSNP: rs730881649
rs730881649
BRIP1
4 0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05 0.700 1.000 5 2005 2016