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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.688 16 2005 2019
dbSNP: rs1161498711
rs1161498711
STAG3 ; CASTOR3
1 7 100198492 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs72609647
rs72609647
USP9Y ; TTTY15
1 Y 12678428 intron variant T/G snv 4.6E-03 0.010 1.000 1 2011 2011
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: rs116298211
rs116298211
AK7
4 0.882 0.160 14 96486941 missense variant T/C;G snv 1.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs121918346
rs121918346
DAZL
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014
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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2017 2018
dbSNP: rs7354779
rs7354779
DNMT3L ; DNMT3L-AS1
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.020 1.000 2 2012 2017
dbSNP: rs1042389
rs1042389
CYP2B6
1 19 41018248 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2014 2014
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: rs1391383394
rs1391383394
DNMT3B
1 20 32791692 missense variant T/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs140027779
rs140027779
BOLL
1 2 197756444 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2004 2004
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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2014 2014
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: rs2424909
rs2424909
DNMT3B
1 20 32774055 intron variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs6068020
rs6068020 		1 20 51943113 intergenic variant T/C snv 0.63 0.800 1.000 1 2010 2010
dbSNP: rs6523
rs6523
INSL3
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.010 1.000 1 2007 2007
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2012 2012
dbSNP: rs727428
rs727428 		11 0.882 0.200 17 7634474 downstream gene variant T/C snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 0.833 6 2008 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2014 2014