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: 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: 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: 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: rs10966811
rs10966811 		2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1262199907
rs1262199907
AR
2 1.000 0.160 X 67685960 missense variant C/T snv 5.5E-06 9.5E-06 0.010 1.000 1 2008 2008
dbSNP: rs138385391
rs138385391
USP26
2 X 133026484 missense variant C/T snv 4.5E-03 3.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs140685149
rs140685149
DEFB126
2 1.000 0.080 20 145670 frameshift variant CC/-;C;CCC delins 0.010 1.000 1 2015 2015
dbSNP: rs144944885
rs144944885
RABL2B ; RPL23AP82
2 1.000 0.040 22 50776482 intron variant G/- delins 0.010 1.000 1 2017 2017
dbSNP: rs1713449
rs1713449
TEP1
2 1.000 0.080 14 20373548 missense variant C/T snv 0.26 0.29 0.010 1.000 1 2014 2014
dbSNP: rs200390780
rs200390780
AR
2 1.000 0.160 X 67546570 missense variant C/T snv 1.5E-03 1.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs2276248
rs2276248
DNMT3L
2 1.000 0.040 21 44259375 intron variant T/C snv 6.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs2288846
rs2288846
RFX2
2 1.000 0.040 19 6042048 missense variant C/T snv 0.25 0.22 0.010 1.000 1 2018 2018
dbSNP: rs35397110
rs35397110
USP26
2 X 133027131 missense variant G/A;T snv 3.8E-02 0.010 < 0.001 1 2008 2008