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
13 0.724 0.250 16 52552429 non coding transcript exon variant A/G snp 0.62 0.900 0.900 29 2007 2017
dbSNP: rs2981582
rs2981582
FGFR2
8 0.801 0.143 10 121592803 intron variant A/G snp 0.59 0.900 0.962 28 2007 2017
dbSNP: rs2046210
rs2046210 		14 0.734 0.143 6 151627231 intergenic variant G/A snp 0.39 0.900 0.875 21 2009 2017
dbSNP: rs1219648
rs1219648
FGFR2
9 0.769 0.179 10 121586676 intron variant A/G,T snp 0.40 0.900 0.938 20 2007 2016
dbSNP: rs889312
rs889312 		12 0.734 0.179 5 56736057 regulatory region variant C/A snp 0.69 0.900 0.857 19 2007 2017
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
10 0.769 0.179 2 217041109 intergenic variant A/G snp 0.44 0.890 0.889 14 2007 2016
dbSNP: rs3817198
rs3817198
LSP1
7 0.801 0.179 11 1887776 intron variant T/C snp 0.25 0.890 1.000 13 2007 2018
dbSNP: rs10941679
rs10941679 		7 0.784 0.107 5 44706396 intergenic variant A/G snp 0.25 0.890 1.000 12 2008 2018
dbSNP: rs13281615
rs13281615
CASC8 ; CASC21
5 0.846 0.107 8 127343372 intron variant A/G snp 0.43 0.880 0.875 12 2007 2018
dbSNP: rs4973768
rs4973768
SLC4A7
2 0.923 0.071 3 27374522 3 prime UTR variant C/T snp 0.42 0.860 1.000 12 2009 2018
dbSNP: rs10995190
rs10995190
ZNF365
2 0.923 0.071 10 62518923 intron variant G/A snp 0.16 0.860 1.000 11 2010 2017
dbSNP: rs2981578
rs2981578
FGFR2
2 0.923 0.071 10 121580797 intron variant C/A,T snp 2.3E-03; 0.41 0.860 0.833 9 2007 2018
dbSNP: rs11249433
rs11249433
EMBP1
4 0.923 0.071 1 121538815 intron variant A/C,G snp 0.28 0.850 0.600 9 2009 2018
dbSNP: rs10069690
rs10069690
TERT
16 0.699 0.321 5 1279675 intron variant C/T snp 0.35 0.840 0.750 9 2012 2018
dbSNP: rs2981579
rs2981579
FGFR2
7 0.801 0.107 10 121577821 intron variant A/G snp 0.54 0.840 1.000 9 2009 2016
dbSNP: rs4784227
rs4784227
CASC16
3 0.878 0.107 16 52565276 intron variant C/T snp 0.20 0.840 1.000 9 2010 2018
dbSNP: rs11571833
rs11571833
BRCA2
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.840 0.500 8 2013 2018
dbSNP: rs999737
rs999737
RAD51B
4 0.878 0.071 14 68567965 intron variant C/T snp 0.16 0.840 0.750 8 2009 2018
dbSNP: rs865686
rs865686
LOC105376214
2 0.923 0.071 9 108126198 intergenic variant G/A,T snp 9.6E-05; 0.63 0.840 1.000 6 2011 2016
dbSNP: rs8170
rs8170
BABAM1
6 0.801 0.143 19 17278895 synonymous variant G/A snp 0.15 0.19 0.830 0.667 6 2010 2016
dbSNP: rs3757318
rs3757318
CCDC170
3 0.878 0.143 6 151592978 intron variant G/A snp 6.2E-02 0.830 1.000 5 2013 2015
dbSNP: rs2180341
rs2180341
RNF146
3 0.923 0.071 6 127279485 intron variant G/A snp 0.73 0.830 0.667 4 2008 2012
dbSNP: rs4415084
rs4415084 		2 0.923 0.071 5 44662413 intergenic variant C/T snp 0.48 0.830 1.000 4 2008 2011
dbSNP: rs10771399
rs10771399 		3 0.878 0.071 12 28002147 intergenic variant A/G snp 9.0E-02 0.820 1.000 6 2012 2016
dbSNP: rs1292011
rs1292011
LOC105370003
2 0.923 0.071 12 115398717 regulatory region variant A/G snp 0.41 0.820 1.000 5 2012 2018