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: rs75246947
rs75246947
MIR221 ; MIR222
1 X 45746891 intron variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1186206565
rs1186206565
PECAM1
1 17 64352432 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1555534379
rs1555534379
NF1
3 1.000 0.120 17 31334856 frameshift variant T/- delins 0.700 0
dbSNP: rs267606600
rs267606600
NF1
4 1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 0.700 0
dbSNP: rs200871174
rs200871174
MSLN ; MIR662
1 16 768475 missense variant C/T snv 7.8E-04 3.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs1285675735
rs1285675735
SORD
6 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs148634289
rs148634289
SDHD
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs756847384
rs756847384
CASP4
1 11 104944794 missense variant G/C snv 3.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1057518903
rs1057518903
MEN1
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs10509681
rs10509681
CYP2C8
8 0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1058930
rs1058930
CYP2C8
4 0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs7909236
rs7909236
CYP2C8
2 1.000 0.040 10 95069673 upstream gene variant G/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1312268347
rs1312268347
SARDH
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
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 2002 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2008 2019
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs371828253
rs371828253
CUX1
1 7 102273431 missense variant C/G snv 2.4E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2015 2015
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
6 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019
dbSNP: rs121908585
rs121908585
PDGFRA
9 0.827 0.080 4 54285926 missense variant A/T snv 0.800 0.952 21 2003 2018
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 16 1998 2017