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: rs7867029
rs7867029
LOC107987083
3 0.925 0.040 9 78405502 intergenic variant G/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs9814870
rs9814870 		1 3 95969999 intergenic variant A/G;T snv 0.19 0.800 1.000 1 2010 2010
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: 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: rs374623109
rs374623109
FSHB ; LOC105376607
2 1.000 0.040 11 30233753 stop gained C/A;T snv 1.6E-05 0.700 1.000 1 2017 2017
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: rs737008
rs737008
PRM1 ; RMI2 ; LOC105371082
2 16 11281009 stop gained G/A;T snv 4.0E-06; 0.58 0.010 1.000 1 2017 2017
dbSNP: rs751680143
rs751680143
STAG3 ; CASTOR3
1 7 100198542 stop gained C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs200750564
rs200750564
HOXD13
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs864309485
rs864309485
TEX15
2 1.000 8 30846888 stop gained A/C snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.926 27 2003 2019
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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.060 0.667 6 2014 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.060 0.833 6 2006 2017
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.060 0.500 6 2011 2017
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.040 0.750 4 2004 2019
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: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 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: 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: 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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2013 2018
dbSNP: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.020 1.000 2 2005 2015
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 0.500 2 2017 2018