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: rs10841496
rs10841496
PDE3A
1 12 20368720 intron variant C/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs1399645
rs1399645
LOC105373644
1 2 139390262 intergenic variant C/T snv 9.0E-02 0.800 1.000 1 2010 2010
dbSNP: rs6068020
rs6068020 		1 20 51943113 intergenic variant T/C snv 0.63 0.800 1.000 1 2010 2010
dbSNP: rs9814870
rs9814870 		1 3 95969999 intergenic variant A/G;T snv 0.19 0.800 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: rs1555979575
rs1555979575
CLDN2 ; MORC4
2 1.000 0.040 X 106928709 missense variant G/C snv 0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
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: rs2301365
rs2301365
PRM1 ; RMI2 ; LOC105371082
1 16 11281429 intron variant G/T snv 0.21 0.030 1.000 3 2015 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: rs10129954
rs10129954
DPF3
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.020 1.000 2 2018 2018
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: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.020 1.000 2 2014 2019