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: rs121918346
rs121918346
DAZL
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs12870438
rs12870438
EPSTI1
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs4647269
rs4647269
MLH1
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.020 1.000 2 2012 2019
dbSNP: rs7174015
rs7174015
USP8
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs10269148
rs10269148
STRA8
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1042064
rs1042064
EPHX2
2 0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
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: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.010 < 0.001 1 2019 2019
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: rs11046992
rs11046992
SOX5
1 1.000 0.040 12 23584632 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11204546
rs11204546
OR2W3
3 0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11703684
rs11703684
PIWIL3
1 1.000 0.040 22 24748945 missense variant C/G;T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs12376894
rs12376894 		1 1.000 0.040 9 25268869 intergenic variant A/G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs1248142939
rs1248142939
PMS2
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs144944885
rs144944885
RABL2B ; RPL23AP82
2 1.000 0.040 22 50776482 intron variant G/- delins 0.010 1.000 1 2017 2017
dbSNP: rs147894843
rs147894843
SEMG1
2 0.925 0.040 20 45208496 missense variant G/A snv 1.0E-04 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs16895863
rs16895863
UBR2
1 1.000 0.040 6 42603608 synonymous variant A/T snv 0.20 0.21 0.010 1.000 1 2016 2016
dbSNP: rs17420802
rs17420802
PMS2
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs202007462
rs202007462
SOAT1
1 1.000 0.040 1 179342120 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs2232015
rs2232015
PRMT6
1 1.000 0.040 1 107056636 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.010 < 0.001 1 2019 2019
dbSNP: rs2656927
rs2656927
UHRF1 ; ARRDC5
1 1.000 0.040 19 4908263 intron variant C/T snv 1.0E-01 0.010 1.000 1 2019 2019
dbSNP: rs2973631
rs2973631
PRDM9
1 1.000 0.040 5 23528117 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2013 2013