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: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.977 43 2010 2020
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.100 0.909 11 2011 2020
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.030 1.000 3 2011 2020
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.030 1.000 3 2011 2020
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 0.500 2 2009 2020
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.020 1.000 2 2016 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2011 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 14 2011 2019
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1249080185
rs1249080185
EPHB2
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs144551722
rs144551722 		4 0.851 0.040 X 43632629 intergenic variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2235544
rs2235544
DIO1
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
4 0.851 0.040 MT 14798 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs4644
rs4644
LGALS3
14 0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs4652
rs4652
LGALS3
12 0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 0.010 1.000 1 2019 2019
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.100 0.909 11 2011 2018
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.080 1.000 8 2013 2018
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.730 1.000 5 2010 2018
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 5 2009 2018
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 3 2015 2018