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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 < 0.001 1 2018 2018
dbSNP: rs4946728
rs4946728
ATG5
3 1.000 0.120 6 106142488 intron variant A/C snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1040411
rs1040411
ATG5
3 1.000 0.120 6 106150148 intron variant G/A snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2017 2017
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2006
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs200081710
rs200081710
TNIP3
3 1.000 0.120 4 121154648 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs77191406
rs77191406
TNFAIP3
12 0.790 0.280 6 137881704 3 prime UTR variant C/T snv 7.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2015 2015
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.020 1.000 2 2010 2016
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.020 1.000 2 2006 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.909 44 2003 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.909 44 2003 2019
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.060 1.000 6 2003 2019
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs60745952
rs60745952
LOC105377481 ; LOC107986195
6 0.925 0.080 4 148827842 intron variant T/C snv 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7758229
rs7758229
SLC22A3
16 0.732 0.120 6 160419220 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014