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: 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: 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: rs724078
rs724078 		3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs769642496
rs769642496
WT1 ; WT1-AS
1 1.000 0.040 11 32434957 missense variant G/A snv 6.4E-06 0.010 1.000 1 2015 2015
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: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs222859
rs222859
YBX2
1 1.000 0.040 17 7294475 missense variant C/A snv 0.72 0.80 0.010 1.000 1 2016 2016
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: rs10129954
rs10129954
DPF3
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2288846
rs2288846
RFX2
2 1.000 0.040 19 6042048 missense variant C/T snv 0.25 0.22 0.010 1.000 1 2018 2018
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: rs150771661
rs150771661
DDX25
1 1.000 0.040 11 125911413 missense variant G/A snv 1.7E-04 9.8E-05 0.010 1.000 1 2019 2019
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: 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: rs1203334353
rs1203334353
DNMT3B
1 1.000 0.040 20 32795683 missense variant G/A snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs140506267
rs140506267
DMRT1
2 0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs34075659
rs34075659
REC8
1 1.000 0.040 14 24172747 missense variant C/G;T snv 2.4E-05; 3.0E-03 0.010 1.000 1 2020 2020