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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2005 2005
dbSNP: rs726455
rs726455
SOX1-OT
1 1.000 13 111997186 intergenic variant C/A;G;T snv 0.010 1.000 1 2006 2006
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: rs2166975
rs2166975
TGFA
5 0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 0.010 1.000 1 2007 2007
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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2009
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: rs10127484
rs10127484
LOC101928059
1 1.000 1 153928504 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs10415622
rs10415622
SLC39A3
1 1.000 19 2739698 intron variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs11264736
rs11264736
SLC39A1 ; CREB3L4
1 1.000 1 153966654 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs164393
rs164393
SLC30A5
1 1.000 5 69113267 non coding transcript exon variant A/C;T snv 0.67; 6.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs2066836
rs2066836
PTCH1
1 1.000 9 95476076 synonymous variant G/A snv 0.17 0.15 0.010 1.000 1 2010 2010
dbSNP: rs2453531
rs2453531
SLC30A4
1 1.000 15 45487612 synonymous variant G/A snv 0.71 0.75 0.010 1.000 1 2010 2010
dbSNP: rs357564
rs357564
PTCH1
6 0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs4806874
rs4806874
SLC39A3
1 1.000 19 2738354 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs611386
rs611386 		1 1.000 1 211596976 regulatory region variant T/C snv 0.86 0.010 1.000 1 2010 2010
dbSNP: rs6886492
rs6886492
SLC30A5
1 1.000 5 69129872 3 prime UTR variant A/C;G snv 0.010 1.000 1 2010 2010
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: rs8029246
rs8029246
HMGN2P46
1 1.000 15 45528960 intron variant G/A;T snv 0.010 1.000 1 2010 2010
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: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 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