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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2228224
rs2228224
GLI1
3 1.000 0.120 12 57471538 missense variant G/A snv 0.50 0.48 0.010 1.000 1 2010 2010
dbSNP: rs2242578
rs2242578
GLI1
2 12 57459370 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs28937569
rs28937569
HSPB1
3 1.000 0.040 7 76304100 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs28939680
rs28939680
HSPB1
4 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs3887412
rs3887412
ABCC1
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs492338
rs492338
ABCG1
2 21 42281867 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs6552496
rs6552496 		2 4 181371930 intergenic variant C/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs74315316
rs74315316
GJB3 ; SMIM12 ; LOC105378642
4 0.925 0.080 1 34784797 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs74315317
rs74315317
GJB3 ; SMIM12 ; LOC105378642
3 1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
5 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009