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 0.070 0.857 7 2010 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.250 4 2010 2015
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2001 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2012 2014
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs12025262
rs12025262 		1 1.000 0.120 1 247193430 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12031579
rs12031579 		1 1.000 0.120 1 119307920 intron variant G/A snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs12117623
rs12117623
DNM3
1 1.000 0.120 1 172072640 intron variant C/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1467465
rs1467465
THEMIS2
7 0.827 0.160 1 27884892 non coding transcript exon variant A/G snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs4648551
rs4648551
TP73
3 0.882 0.120 1 3716166 intron variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs5013329
rs5013329
NSUN4
6 0.827 0.160 1 46349419 intron variant C/T snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs638820
rs638820
GSTM2 ; GSTM4
5 0.827 0.160 1 109667284 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs6695978
rs6695978
TP73
3 0.882 0.120 1 3731781 intron variant G/A snv 7.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs7365052
rs7365052 		3 0.882 0.120 1 236786561 intergenic variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs7526063
rs7526063
MTR
3 0.882 0.120 1 236808698 splice region variant C/T snv 3.8E-02 5.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2017 2017