Source: BEFREE ×
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 		3 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.820 1.000 2 2009 2013
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 5 2002 2015
dbSNP: rs28897672
rs28897672
BRCA1
10 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 3 2006 2010
dbSNP: rs11571833
rs11571833
BRCA2
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 2 2016 2018
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
3 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 2 2010 2017
dbSNP: rs10069690
rs10069690
TERT
40 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 1 2016 2017
dbSNP: rs10088218
rs10088218
LINC00824
3 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.710 1.000 1 2010 2013
dbSNP: rs104886003
rs104886003
PIK3CA
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 2005 2016
dbSNP: rs11651755
rs11651755
HNF1B
5 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.710 1.000 1 2017 2017
dbSNP: rs121913279
rs121913279
PIK3CA
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2005 2016
dbSNP: rs121913343
rs121913343
TP53
20 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 1 2011 2011
dbSNP: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2005 2011
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.710 1.000 1 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 1 2010 2012
dbSNP: rs397516436
rs397516436
TP53
9 0.641 0.440 17 7674894 stop gained G/A;C snv 0.710 1.000 1 1998 1998
dbSNP: rs41293459
rs41293459
BRCA1
9 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.710 1.000 1 2012 2012
dbSNP: rs8037137
rs8037137
RCCD1
6 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.710 1.000 1 2016 2017
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
12 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.710 1.000 1 2010 2013
dbSNP: rs876660754
rs876660754
TP53
4 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 2010 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2011 2015
dbSNP: rs2070074
rs2070074
GALT
11 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
dbSNP: rs2228570
rs2228570
VDR
98 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.050 1.000 5 2011 2018
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.050 0.800 5 2013 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 1.000 4 2012 2015