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: rs1005230
rs1005230
VEGFA
5 0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60 0.010 1.000 1 2018 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
dbSNP: rs1029044314
rs1029044314
DDR1
4 0.851 0.040 6 30898095 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
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: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C snv 0.020 1.000 2 2013 2013
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.050 1.000 5 2013 2017
dbSNP: rs1057519904
rs1057519904
H3C11
17 0.742 0.080 6 27872233 missense variant T/A snv 0.010 1.000 1 2013 2013
dbSNP: rs10852606
rs10852606
HEATR3
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11196067
rs11196067
VTI1A
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs11233250
rs11233250
MIR4300HG
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.090 1.000 9 2011 2019
dbSNP: rs1135401891
rs1135401891
BRCA2
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 1.000 1 2011 2011
dbSNP: rs11548193
rs11548193
BCAT2
2 0.925 0.040 19 48799813 missense variant G/A;C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs11558961
rs11558961
GFAP
2 0.925 0.040 17 44907319 3 prime UTR variant G/C;T snv 0.27; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs1161136341
rs1161136341
HDAC9
2 0.925 0.080 7 18591621 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019