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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2007 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2012 2013
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: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs11677854
rs11677854
GTF2A1L ; STON1-GTF2A1L
1 1.000 0.040 2 48664148 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.010 1.000 1 2019 2019
dbSNP: rs68073206
rs68073206
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 1.000 0.040 2 48721568 3 prime UTR variant A/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs121918346
rs121918346
DAZL
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.010 < 0.001 1 2005 2005
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: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
dbSNP: rs4647269
rs4647269
MLH1
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 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: 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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
dbSNP: rs26279
rs26279
MSH3
9 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 0.010 1.000 1 2019 2019
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: rs140756663
rs140756663
TSPYL1 ; DSE
2 0.925 0.040 6 116278733 missense variant G/T snv 3.6E-03 2.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs201438485
rs201438485
TSPYL1 ; DSE
2 0.925 0.160 6 116278872 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs2207396
rs2207396
ESR1
2 0.925 0.120 6 152061247 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs370116569
rs370116569
TSPYL1 ; DSE
2 0.925 0.040 6 116279412 missense variant G/C snv 3.2E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs724078
rs724078 		3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 < 0.001 1 2015 2015