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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 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: 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: 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: 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: 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: rs475202
rs475202 		1 1.000 13 68578880 intergenic variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs4806874
rs4806874
SLC39A3
1 1.000 19 2738354 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6659735
rs6659735
PAX7
1 1.000 1 18657203 intron variant G/A;T snv 0.010 1.000 1 2013 2013
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: rs726455
rs726455
SOX1-OT
1 1.000 13 111997186 intergenic variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs8029246
rs8029246
HMGN2P46
1 1.000 15 45528960 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs201002930
rs201002930
WNT10A
6 0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.800 5 1998 2016
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: rs758551492
rs758551492
TFAP2A ; TFAP2A-AS2
1 1.000 6 10406842 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
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
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: 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: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 1.000 1 2014 2014
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: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011