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: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2011 2011
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1010
rs1010
VAMP8
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.020 1.000 2 2007 2012
dbSNP: rs10116277
rs10116277
CDKN2B-AS1
8 0.827 0.160 9 22081398 intron variant G/T snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs10118757
rs10118757
MTAP
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs10159239
rs10159239
NLRP3
3 0.882 0.040 1 247443750 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs1017
rs1017
ISL1
2 1.000 0.040 5 51394261 3 prime UTR variant A/G;T snv 0.030 0.333 3 2012 2014
dbSNP: rs10217586
rs10217586
CDKN2B-AS1
2 1.000 0.040 9 22121350 intron variant A/T snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs10218795
rs10218795
HJV
1 1.000 0.040 1 146018957 intron variant G/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10235849
rs10235849
TBX20
1 1.000 0.040 7 35255752 upstream gene variant T/A snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.020 1.000 2 2010 2013
dbSNP: rs10399931
rs10399931
CHI3L1
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.800 1.000 2 2011 2016
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2006 2006
dbSNP: rs1042031
rs1042031
APOB
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10420321
rs10420321
DNMT1
2 0.925 0.080 19 10189741 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.040 1.000 4 2001 2015
dbSNP: rs1042620356
rs1042620356
GSTO1
1 1.000 0.040 10 104259596 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2005 2008
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.030 1.000 3 2005 2018
dbSNP: rs10431335
rs10431335 		1 1.000 0.040 12 128194523 upstream gene variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1043618
rs1043618
HSPA1A ; HSPA1L
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2009 2009