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: 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: rs121918346
rs121918346
DAZL
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2015
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: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.020 1.000 2 2010 2011
dbSNP: rs11703684
rs11703684
PIWIL3
1 1.000 0.040 22 24748945 missense variant C/G;T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs175080
rs175080
MLH3
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.010 1.000 1 2010 2010
dbSNP: rs508485
rs508485
PIWIL4 ; LOC105369438
1 1.000 0.040 11 94621313 3 prime UTR variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2011 2013
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2011 2011
dbSNP: rs4647269
rs4647269
MLH1
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.020 1.000 2 2012 2019
dbSNP: rs1042064
rs1042064
EPHX2
2 0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
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: rs1248142939
rs1248142939
PMS2
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17420802
rs17420802
PMS2
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
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: rs35576928
rs35576928
PRM1 ; RMI2 ; LOC105371082
1 1.000 0.040 16 11281137 missense variant C/A;G snv 8.7E-03; 4.0E-06 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: 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: 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
dbSNP: rs786203623
rs786203623
MLH1
2 0.925 0.040 3 37017520 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs864622096
rs864622096
PMS2
2 0.925 0.040 7 5986916 missense variant G/A snv 0.010 1.000 1 2012 2012