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: rs494453
rs494453
RAP1A ; KRT18P57
1 1.000 0.080 1 111649500 non coding transcript exon variant T/C snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2012 2012
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs7605378
rs7605378
FTCDNL1
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.830 1.000 3 2011 2015
dbSNP: rs2278729
rs2278729
TBC1D8
1 1.000 0.080 2 101052395 intron variant G/A snv 0.25 0.810 1.000 2 2010 2017
dbSNP: rs10203122
rs10203122
FTCDNL1
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs12151790
rs12151790 		1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs1440203097
rs1440203097
ADRA2B
1 1.000 0.080 2 96116013 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2071375
rs2071375
IL1A
1 1.000 0.080 2 112777861 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.010 1.000 1 2010 2010
dbSNP: rs767664523
rs767664523
FRZB
1 1.000 0.080 2 182834869 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 < 0.001 2 2003 2007
dbSNP: rs784288
rs784288
MECOM
2 1.000 0.080 3 169253443 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs9825174
rs9825174
XXYLT1
2 0.925 0.120 3 195118855 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1471400
rs1471400 		1 1.000 0.080 4 87853095 regulatory region variant G/A snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1471403
rs1471403 		2 1.000 0.080 4 87854091 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs308442
rs308442
FGF2
1 1.000 0.080 4 122853758 intron variant T/A snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs3755955
rs3755955
IDUA
4 0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2012 2012
dbSNP: rs6532023
rs6532023 		3 1.000 0.080 4 87852697 regulatory region variant T/G snv 0.66 0.010 1.000 1 2013 2013