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: 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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2012 2018
dbSNP: rs28368082
rs28368082
SPO11
1 20 57335452 missense variant C/T snv 5.7E-05 0.030 1.000 3 2011 2017
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 0.333 3 2011 2015
dbSNP: rs1646022
rs1646022
PRM2 ; RMI2 ; LOC105371082
1 16 11276073 intron variant C/G;T snv 0.37 0.020 1.000 2 2017 2018
dbSNP: rs184752888
rs184752888
BRD2
4 0.882 0.120 6 32977847 missense variant G/A snv 0.020 0.500 2 2011 2015
dbSNP: rs2292596
rs2292596
AHRR
7 0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 0.020 1.000 2 2004 2019
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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1050482
rs1050482
SLC20A1
1 2 112663757 3 prime UTR variant G/A snv 0.010 1.000 1 2018 2018
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: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2019 2019
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs11710967
rs11710967
DAZL
1 3 16598568 missense variant T/A;C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.010 1.000 1 2019 2019
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: rs1259503
rs1259503 		1 10 75232686 downstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
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: rs1377547190
rs1377547190
RAG1
1 11 36573327 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs139524801
rs139524801
AR
3 0.925 0.160 X 67643283 missense variant G/A;T snv 1.8E-04 0.010 1.000 1 2008 2008
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: rs141425171
rs141425171
AR
3 1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06 0.010 1.000 1 2001 2001