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: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2013
dbSNP: rs1258763
rs1258763 		2 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs475202
rs475202 		1 1.000 13 68578880 intergenic variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs611386
rs611386 		1 1.000 1 211596976 regulatory region variant T/C snv 0.86 0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs756518905
rs756518905
AP2A1
1 1.000 19 49782722 splice region variant C/T snv 9.3E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs2326398
rs2326398
CRISPLD2
5 0.827 0.200 16 84869111 intron variant A/G snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs4783099
rs4783099
CRISPLD2
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs8061351
rs8061351
CRISPLD2
1 1.000 16 84849496 synonymous variant C/T snv 4.0E-06; 0.70 0.61 0.010 1.000 1 2011 2011
dbSNP: rs7552
rs7552
CYRIA
3 0.882 0.120 2 16552660 splice region variant A/G snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs6576618
rs6576618
GABRB3
1 1.000 15 26799458 intron variant A/C snv 0.59 0.010 1.000 1 2013 2013
dbSNP: rs981778
rs981778
GABRB3
1 1.000 15 26712093 intron variant G/A snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs779370829
rs779370829
GLI2
1 1.000 2 120989858 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
dbSNP: rs8029246
rs8029246
HMGN2P46
1 1.000 15 45528960 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.050 1.000 5 2005 2017
dbSNP: rs10127484
rs10127484
LOC101928059
1 1.000 1 153928504 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs951095
rs951095
LOC107984606 ; LOC107984607
1 1.000 13 104826293 intergenic variant C/T snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs197204
rs197204
MCUB
4 0.851 0.200 4 109576918 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2008 2008
dbSNP: rs3832406
rs3832406
MTHFD1L
3 0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05 0.010 1.000 1 2012 2012