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: rs9814870
rs9814870 		1 3 95969999 intergenic variant A/G;T snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs952566855
rs952566855
ATM
1 11 108259068 missense variant A/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs887303970
rs887303970
SOD3
10 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2018 2018
dbSNP: rs864309485
rs864309485
TEX15
2 1.000 8 30846888 stop gained A/C snv 0.700 0
dbSNP: rs8069533
rs8069533
YBX2
1 17 7294314 missense variant A/G snv 0.46 0.48 0.010 1.000 1 2018 2018
dbSNP: rs7867029
rs7867029
LOC107987083
3 0.925 0.040 9 78405502 intergenic variant G/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs777772044
rs777772044
MUC1
2 1.000 0.160 1 155186160 missense variant A/C;G snv 1.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs751680143
rs751680143
STAG3 ; CASTOR3
1 7 100198542 stop gained C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs737008
rs737008
PRM1 ; RMI2 ; LOC105371082
2 16 11281009 stop gained G/A;T snv 4.0E-06; 0.58 0.010 1.000 1 2017 2017
dbSNP: rs7354779
rs7354779
DNMT3L ; DNMT3L-AS1
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.020 1.000 2 2012 2017
dbSNP: rs727428
rs727428 		11 0.882 0.200 17 7634474 downstream gene variant T/C snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs72609647
rs72609647
USP9Y ; TTTY15
1 Y 12678428 intron variant T/G snv 4.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs724078
rs724078 		3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs7174015
rs7174015
USP8
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs68073206
rs68073206
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 1.000 0.040 2 48721568 3 prime UTR variant A/C snv 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs6631
rs6631
CGA
1 6 87085541 3 prime UTR variant A/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2012 2012
dbSNP: rs6523
rs6523
INSL3
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.010 1.000 1 2007 2007
dbSNP: rs6476866
rs6476866 		1 9 4459274 intergenic variant G/A snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs6259
rs6259
SHBG
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.020 1.000 2 2011 2017
dbSNP: rs61741870
rs61741870
USP26
2 1.000 0.040 X 133027727 missense variant A/G snv 2.6E-02 3.4E-02 0.010 1.000 1 2015 2015