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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.833 6 2007 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.833 6 2007 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.833 6 2007 2016
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.050 0.800 5 2005 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2009 2017
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 1.000 3 2012 2018
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 1.000 2 2010 2015
dbSNP: rs11674184
rs11674184
GREB1
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2008 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2004 2010
dbSNP: rs6542095
rs6542095 		1 1.000 0.040 2 112771606 downstream gene variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2020
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.020 0.500 2 2013 2018
dbSNP: rs7739264
rs7739264
LOC100506885
1 1.000 0.040 6 19785357 intron variant C/G;T snv 0.810 1.000 2 2012 2015
dbSNP: rs10129516
rs10129516
LOC105370531
1 1.000 0.040 14 63133372 intron variant T/A;C snv 0.710 < 0.001 1 2017 2017
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs10794288
rs10794288
MUC2
1 1.000 0.040 11 1086825 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10835638
rs10835638
FSHB ; LOC105376607
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs1104760
rs1104760
MUC4
1 1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs11085835
rs11085835
CACNA1A
1 1.000 0.040 19 13221196 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11132055
rs11132055
LOC107986205
1 1.000 0.040 4 181401652 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs113593938
rs113593938
DNMT3L ; DNMT3L-AS1
7 0.790 0.200 21 44250907 missense variant C/T snv 3.5E-03 0.010 1.000 1 2016 2016