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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
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: rs201438485
rs201438485
TSPYL1 ; DSE
2 0.925 0.160 6 116278872 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs2070565
rs2070565
DNMT3L
3 0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75 0.010 1.000 1 2012 2012
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2207396
rs2207396
ESR1
2 0.925 0.120 6 152061247 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
dbSNP: rs222859
rs222859
YBX2
1 1.000 0.040 17 7294475 missense variant C/A snv 0.72 0.80 0.010 1.000 1 2016 2016
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2014 2014
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: rs26279
rs26279
MSH3
9 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 0.010 1.000 1 2019 2019
dbSNP: rs34075659
rs34075659
REC8
1 1.000 0.040 14 24172747 missense variant C/G;T snv 2.4E-05; 3.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs34349826
rs34349826
LHB
4 0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs370116569
rs370116569
TSPYL1 ; DSE
2 0.925 0.040 6 116279412 missense variant G/C snv 3.2E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs4045481
rs4045481
RNF212
2 1.000 0.040 4 1096837 stop gained G/A snv 0.64 0.57 0.010 1.000 1 2018 2018
dbSNP: rs4474514
rs4474514
KITLG
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs4647269
rs4647269
MLH1
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs553509
rs553509
H2BW1
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs587781908
rs587781908
PMS2
2 0.925 0.040 7 6005973 missense variant A/G snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.010 1.000 1 2019 2019
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 1.000 1 2017 2017
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: rs763468927
rs763468927
PMS2
2 0.925 0.040 7 5977755 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012