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: rs1340827343
rs1340827343
POU5F1 ; TCF19
4 0.851 0.040 6 31165259 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs2234248
rs2234248
TREM2 ; LOC105375056
5 0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs3024994
rs3024994
VEGFA
8 0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs572480837
rs572480837
POU5F1 ; TCF19
4 0.851 0.040 6 31165582 missense variant T/A snv 5.0E-04 8.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs759927375
rs759927375
H3C1 ; H4C1
2 0.925 0.040 6 26020589 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs766265850
rs766265850
DDR1 ; MIR4640
4 0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.090 1.000 9 2011 2019
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
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: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
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
dbSNP: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1381537616
rs1381537616
HOXA9 ; HOXA10 ; HOXA10-HOXA9
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs149840192
rs149840192
EGFR
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs59060240
rs59060240
EGFR
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs755794544
rs755794544
PDGFA
4 0.851 0.040 7 512435 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs774238794
rs774238794
HDAC9
2 0.925 0.080 7 18644690 missense variant G/A;T snv 4.1E-05; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs9642393
rs9642393
EGFR
2 0.925 0.040 7 55177954 intron variant T/C snv 0.24 0.010 1.000 1 2013 2013