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: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.070 1.000 7 2007 2014
dbSNP: rs1861972
rs1861972
EN2
2 0.925 0.040 7 155461298 intron variant G/A snv 0.72 0.060 1.000 6 2004 2014
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.040 1.000 4 2005 2014
dbSNP: rs2056202
rs2056202
SLC25A12
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.040 1.000 4 2008 2017
dbSNP: rs2292813
rs2292813
SLC25A12
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2008 2017
dbSNP: rs7794745
rs7794745
CNTNAP2
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 1.000 4 2010 2019
dbSNP: rs1023159
rs1023159
SLC19A1
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs1042778
rs1042778
CAV3 ; OXTR
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 2019
dbSNP: rs10951154
rs10951154
HOXA1 ; HOTAIRM1
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.020 0.500 2 2011 2012
dbSNP: rs237889
rs237889
CAV3 ; OXTR
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.020 1.000 2 2008 2016
dbSNP: rs237897
rs237897
CAV3 ; OXTR
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs3735653
rs3735653
EN2
2 0.925 0.040 7 155458738 missense variant C/G;T snv 0.54 0.020 1.000 2 2004 2010
dbSNP: rs4141463
rs4141463
MACROD2
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.020 1.000 2 2011 2019
dbSNP: rs4446909
rs4446909
ASMT
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs577802449
rs577802449
SLC6A3
1 1.000 0.040 5 1414780 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 2013 2019
dbSNP: rs5989681
rs5989681
ASMT
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs10230087
rs10230087
FOXP2
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1026306398
rs1026306398
EN2
1 1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1033810883
rs1033810883
WNT1 ; WNT10B
1 1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10418707
rs10418707
DNMT1
1 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10423341
rs10423341
DNMT1
1 1.000 0.040 19 10156590 intron variant C/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs10497655
rs10497655
ZNF804A ; LOC105373780
2 1.000 0.040 2 184597314 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10498676
rs10498676
ELOVL2
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs11155819
rs11155819
ESR1
1 1.000 0.040 6 151878224 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11236697
rs11236697
SHANK2
1 1.000 0.040 11 70576391 intron variant T/C snv 4.4E-02 0.010 1.000 1 2018 2018