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: rs6964587
rs6964587
AKAP9
4 0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 0.720 1.000 4 2008 2017
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.720 1.000 3 2012 2016
dbSNP: rs12922061
rs12922061
CASC16
3 0.925 0.080 16 52601088 intron variant C/T snv 0.19 0.720 1.000 3 2013 2019
dbSNP: rs2290203
rs2290203
PRC1 ; PRC1-AS1
3 0.882 0.160 15 90968837 3 prime UTR variant G/A snv 0.29 0.720 1.000 3 2014 2017
dbSNP: rs2380205
rs2380205 		3 0.882 0.080 10 5844771 upstream gene variant C/T snv 0.47 0.720 1.000 3 2010 2012
dbSNP: rs9383938
rs9383938
ESR1
5 0.827 0.160 6 151666222 intron variant G/T snv 0.11 0.720 1.000 3 2011 2014
dbSNP: rs10822013
rs10822013
ZNF365
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.720 1.000 2 2011 2016
dbSNP: rs3750817
rs3750817
FGFR2
4 0.851 0.080 10 121573063 intron variant C/G;T snv 0.720 1.000 2 2009 2012
dbSNP: rs9485372
rs9485372
TAB2
6 0.807 0.120 6 149287738 intron variant G/A snv 0.20 0.720 1.000 2 2012 2018
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: rs4808801
rs4808801
ELL
2 0.925 0.080 19 18460331 intron variant A/G snv 0.45 0.710 1.000 4 2013 2017
dbSNP: rs4849887
rs4849887 		7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.710 1.000 4 2013 2019
dbSNP: rs515726123
rs515726123
PALB2
4 0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 0.710 1.000 4 2010 2018
dbSNP: rs6001930
rs6001930
MRTFA
2 0.925 0.080 22 40480230 intron variant T/C snv 0.12 0.710 1.000 4 2013 2017
dbSNP: rs614367
rs614367 		4 0.882 0.080 11 69513996 intergenic variant C/T snv 0.14 0.710 1.000 4 2010 2014
dbSNP: rs6828523
rs6828523
ADAM29
4 0.851 0.080 4 174925275 intron variant C/A snv 0.20 0.710 1.000 4 2013 2017
dbSNP: rs7297051
rs7297051 		2 0.925 0.080 12 28021884 TF binding site variant C/T snv 0.22 0.710 1.000 4 2016 2017
dbSNP: rs7904519
rs7904519
TCF7L2
9 0.763 0.240 10 113014168 intron variant A/G snv 0.55 0.710 1.000 4 2013 2018
dbSNP: rs941764
rs941764
CCDC88C
2 0.925 0.080 14 91374725 intron variant A/G snv 0.46 0.710 1.000 4 2013 2017