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: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12435998
rs12435998
SEL1L
4 0.851 0.200 14 81506329 intron variant T/C snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs730880413
rs730880413
BRAF
2 0.925 0.080 7 140801460 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs757238433
rs757238433
ISG20
3 0.882 0.200 15 88655497 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs77010898
rs77010898
CFTR
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2011 2011