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: rs11591741
rs11591741
CHUK
1 1.000 0.080 10 100216744 intron variant G/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs746722465
rs746722465
FANCD2
1 1.000 0.080 3 10042563 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs35927125
rs35927125
KLF11
3 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 0.060 0.833 6 2005 2009
dbSNP: rs34336420
rs34336420
KLF11
4 0.882 0.080 2 10047996 missense variant C/G;T snv 4.0E-06; 3.3E-03 0.020 1.000 2 2005 2009
dbSNP: rs121912645
rs121912645
KLF11
4 0.882 0.080 2 10048376 missense variant G/T snv 1.3E-04 8.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs2073162
rs2073162
TNMD
2 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2007 2007
dbSNP: rs2073163
rs2073163
TNMD
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2007 2007
dbSNP: rs1155974
rs1155974
TNMD
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2007 2007
dbSNP: rs507392
rs507392
EPO
2 0.925 0.160 7 100722313 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs551238
rs551238
EPO
5 0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs7158663
rs7158663
MEG3
9 0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs72928364
rs72928364
ABI3BP
2 1.000 0.080 3 100894935 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs6092
rs6092
SERPINE1
6 0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs948516
rs948516
PGR-AS1
1 1.000 0.080 11 101139202 intron variant A/G snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs1384565
rs1384565 		1 1.000 0.080 15 101264707 intergenic variant T/C snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs78900934
rs78900934 		2 1.000 0.080 1 101272565 upstream gene variant C/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs6598475
rs6598475
PCSK6
1 1.000 0.080 15 101446425 intron variant G/T snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs6543087
rs6543087
MAP4K4
2 1.000 0.080 2 101699471 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11674694
rs11674694
MAP4K4
1 1.000 0.080 2 101708862 intron variant C/T snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs78789647
rs78789647
DNMT1
1 1.000 0.080 19 10182225 intron variant C/A;T snv 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs2236935
rs2236935
MAP4K4
1 1.000 0.080 2 101827580 intron variant C/T snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs117168171
rs117168171 		2 1.000 0.080 15 101854599 downstream gene variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs994411260
rs994411260
DNMT1
2 0.925 0.160 19 10194877 missense variant G/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2607653
rs2607653
FGF14
2 1.000 0.080 13 102066314 intron variant A/G snv 5.9E-02 0.700 1.000 1 2018 2018