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: rs10995190
rs10995190
ZNF365
4 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.770 1.000 11 2010 2017
dbSNP: rs2981578
rs2981578
FGFR2
2 0.925 0.080 10 121580797 intron variant C/A;T snv 0.790 0.909 11 2009 2018
dbSNP: rs4415084
rs4415084 		6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.790 1.000 10 2008 2018
dbSNP: rs10771399
rs10771399 		5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.750 1.000 9 2012 2016
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.080 1.000 8 2004 2010
dbSNP: rs1292011
rs1292011
LOC105370003
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.740 1.000 7 2012 2017
dbSNP: rs8051542
rs8051542
TOX3
2 0.925 0.080 16 52500255 intron variant T/C snv 0.61 0.070 0.857 7 2010 2019
dbSNP: rs1213469537
rs1213469537
CAV1
9 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.060 1.000 6 2002 2013
dbSNP: rs2823093
rs2823093 		3 0.882 0.080 21 15148511 intergenic variant G/A snv 0.32 0.730 0.833 6 2012 2017
dbSNP: rs704010
rs704010
ZMIZ1
4 0.851 0.080 10 79081391 intron variant T/C snv 0.71 0.720 1.000 6 2010 2017
dbSNP: rs865686
rs865686
LOC105376214
4 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 0.740 1.000 6 2011 2016
dbSNP: rs11075995
rs11075995
FTO
5 0.882 0.080 16 53821379 intron variant A/T snv 0.77 0.720 1.000 5 2013 2017
dbSNP: rs1432679
rs1432679
EBF1
4 0.851 0.080 5 158817075 intron variant C/T snv 0.44 0.720 1.000 5 2013 2017
dbSNP: rs17822931
rs17822931
ABCC11
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.050 0.800 5 2009 2019
dbSNP: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.050 1.000 5 2004 2010
dbSNP: rs616488
rs616488
PEX14
2 0.925 0.080 1 10506158 intron variant A/G snv 0.27 0.710 1.000 5 2013 2017
dbSNP: rs10759243
rs10759243 		2 0.925 0.080 9 107543834 upstream gene variant C/A;T snv 0.710 1.000 4 2013 2017
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
4 0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15 0.710 1.000 4 2013 2018
dbSNP: rs11780156
rs11780156
PVT1
4 0.925 0.080 8 128182395 intron variant C/T snv 0.13 0.710 1.000 4 2013 2017
dbSNP: rs12493607
rs12493607
TGFBR2
3 0.882 0.080 3 30641447 intron variant G/C;T snv 0.710 1.000 4 2013 2017
dbSNP: rs12710696
rs12710696
LINC01376
2 0.925 0.080 2 19121042 intron variant T/A;C snv 0.710 1.000 4 2013 2017
dbSNP: rs13329835
rs13329835
CDYL2
2 0.925 0.080 16 80616908 intron variant A/G snv 0.35 0.710 1.000 4 2013 2017
dbSNP: rs17356907
rs17356907
PGAM1P5
3 0.925 0.080 12 95633983 intron variant A/G snv 0.28 0.700 1.000 4 2013 2017
dbSNP: rs28363284
rs28363284
RAD51D ; RAD51L3-RFFL
5 0.882 0.080 17 35103294 missense variant T/C snv 9.7E-03 1.1E-02 0.040 0.750 4 2004 2010
dbSNP: rs4808801
rs4808801
ELL
2 0.925 0.080 19 18460331 intron variant A/G snv 0.45 0.710 1.000 4 2013 2017