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: rs36069724
rs36069724
CRISP2
2 6 49695854 missense variant A/G snv 1.7E-02 1.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs372015936
rs372015936
BOLL
1 2 197743089 missense variant G/A;C snv 4.1E-05; 4.1E-06 0.010 1.000 1 2004 2004
dbSNP: rs3750075
rs3750075
FKBP6 ; TRIM50
1 7 73329400 missense variant C/A;T snv 2.4E-03 8.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs375376464
rs375376464
PRM2 ; RMI2 ; LOC105371082
1 16 11276355 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3817444
rs3817444
CLOCK
1 4 55509814 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs4804490
rs4804490
DNMT1
1 19 10156335 intron variant C/A snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs4844247
rs4844247
TEX11
1 X 70670451 missense variant C/T snv 0.10 7.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs6068020
rs6068020 		1 20 51943113 intergenic variant T/C snv 0.63 0.800 1.000 1 2010 2010
dbSNP: rs6124715
rs6124715
EPPIN ; EPPIN-WFDC6
1 20 45548848 upstream gene variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6476866
rs6476866 		1 9 4459274 intergenic variant G/A snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs6631
rs6631
CGA
1 6 87085541 3 prime UTR variant A/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs72609647
rs72609647
USP9Y ; TTTY15
1 Y 12678428 intron variant T/G snv 4.6E-03 0.010 1.000 1 2011 2011
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: 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: rs8069533
rs8069533
YBX2
1 17 7294314 missense variant A/G snv 0.46 0.48 0.010 1.000 1 2018 2018
dbSNP: rs952566855
rs952566855
ATM
1 11 108259068 missense variant A/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs9814870
rs9814870 		1 3 95969999 intergenic variant A/G;T snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs864309485
rs864309485
TEX15
2 1.000 8 30846888 stop gained A/C snv 0.700 0
dbSNP: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.030 1.000 3 2012 2018
dbSNP: rs553509
rs553509
H2BW1
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.030 1.000 3 2012 2018
dbSNP: rs10129954
rs10129954
DPF3
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.020 1.000 2 2018 2018
dbSNP: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.020 1.000 2 2014 2019
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.020 0.500 2 2014 2019
dbSNP: rs1059060
rs1059060
PMS2
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs10966811
rs10966811 		2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 1 2018 2018