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: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.900 0.953 43 2007 2019
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.900 1.000 28 2009 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.900 0.895 19 2003 2017
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.850 0.875 8 2010 2016
dbSNP: rs1314913
rs1314913
RAD51B
6 0.807 0.120 14 68232877 intron variant C/T snv 0.13 0.830 1.000 4 2012 2019
dbSNP: rs2588809
rs2588809
RAD51B
6 0.807 0.160 14 68193711 intron variant T/C snv 0.80 0.820 1.000 6 2012 2017
dbSNP: rs2290854
rs2290854
MDM4
2 0.925 0.080 1 204546897 intron variant A/G snv 0.65 0.57 0.810 1.000 1 2013 2013
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.800 0.972 36 2007 2019
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.800 1.000 25 2007 2018
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.800 0.958 24 2007 2017
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.800 0.864 22 2007 2017
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.800 1.000 21 2007 2016
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.800 1.000 19 2008 2017
dbSNP: rs4973768
rs4973768
SLC4A7
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.800 1.000 17 2009 2019
dbSNP: rs3817198
rs3817198
LSP1
8 0.790 0.280 11 1887776 intron variant T/C snv 0.26 0.800 0.938 16 2007 2017
dbSNP: rs1744947
rs1744947
RAD51B
1 1.000 0.080 14 68214759 intron variant C/T snv 0.18 0.800 1.000 2 2012 2017
dbSNP: rs11196174
rs11196174
TCF7L2
1 1.000 0.080 10 112974337 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs903263
rs903263
PRKACB ; LOC107985046
1 1.000 0.080 1 84156830 intron variant G/A;T snv 0.800 1.000 1 2012 2012
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: 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: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.770 0.818 11 2009 2017
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.770 0.909 11 2009 2017
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.770 1.000 10 2010 2020
dbSNP: rs6504950
rs6504950
STXBP4
7 0.807 0.120 17 54979110 intron variant G/A snv 0.29 0.770 0.900 10 2009 2017