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: 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: 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: 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: rs10966811
rs10966811 		2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 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: 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: 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: rs724078
rs724078 		3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs10835638
rs10835638
FSHB ; LOC105376607
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs696
rs696
NFKBIA
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2019 2019
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: rs786203623
rs786203623
MLH1
2 0.925 0.040 3 37017520 missense variant T/A;C snv 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: rs3749897
rs3749897
UBR2
1 1.000 0.040 6 42564364 missense variant C/G;T snv 0.43 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: rs373341
rs373341
UBR2
1 1.000 0.040 6 42691014 intron variant T/C;G snv 0.49; 5.2E-05 0.010 1.000 1 2016 2016
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: 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: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.020 1.000 2 2010 2011
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2011 2011
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: rs8103849
rs8103849
UHRF1 ; ARRDC5
1 1.000 0.040 19 4909617 missense variant C/G snv 0.38 0.40 0.010 1.000 1 2019 2019