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: rs10918682
rs10918682
POU2F1
1 1.000 0.080 1 167312757 intron variant A/G snv 1.0E-02 0.020 1.000 2 2010 2014
dbSNP: rs1193179
rs1193179
CAMTA1
1 1.000 0.080 1 7509542 intron variant C/T snv 0.62 0.700 1.000 2 2007 2009
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.020 1.000 2 2011 2017
dbSNP: rs1333062
rs1333062
ITLN1
6 0.807 0.200 1 160876494 downstream gene variant T/C;G snv 0.020 1.000 2 2012 2019
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2003 2007
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2010 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2014 2014
dbSNP: rs2073658
rs2073658
USF1
4 0.882 0.200 1 161040972 intron variant C/T snv 0.21 0.020 1.000 2 2005 2008
dbSNP: rs2229569
rs2229569
SELL ; C1orf112
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.020 1.000 2 2011 2012
dbSNP: rs2296172
rs2296172
MACF1
4 1.000 0.080 1 39370145 missense variant A/G;T snv 0.19; 8.0E-06 0.700 1.000 2 2017 2018
dbSNP: rs2746342
rs2746342
PRKAA2
1 1.000 0.080 1 56670576 intron variant G/A;T snv 0.020 1.000 2 2017 2018
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.020 1.000 2 2003 2004
dbSNP: rs3014866
rs3014866
S100A9
1 1.000 0.080 1 153356595 upstream gene variant T/A;C snv 0.020 1.000 2 2013 2016
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.020 0.500 2 2015 2017
dbSNP: rs348330
rs348330
ABCB10
1 1.000 0.080 1 229537208 intron variant G/A snv 0.47 0.700 1.000 2 2018 2019
dbSNP: rs3767434
rs3767434
POU2F1
3 0.925 0.080 1 167401914 intron variant T/C snv 0.14 0.020 1.000 2 2010 2014
dbSNP: rs3768321
rs3768321
PABPC4 ; PABPC4-AS1
5 1.000 0.080 1 39570256 intron variant G/T snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.020 0.500 2 2003 2007
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.020 1.000 2 2012 2014
dbSNP: rs58432198
rs58432198
FAF1
1 1.000 0.080 1 50790419 intron variant C/T snv 8.3E-02 0.700 1.000 2 2019 2019
dbSNP: rs7542900
rs7542900
LOC105378861
1 1.000 0.080 1 94604485 intergenic variant T/C snv 0.74 0.020 1.000 2 2012 2015
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs1000283
rs1000283
HSD11B1 ; HSD11B1-AS1
2 0.925 0.080 1 209721316 intron variant G/A snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs1027700
rs1027700
ATF6
1 1.000 0.080 1 161787246 intron variant A/T snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs10399931
rs10399931
CHI3L1
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 < 0.001 1 2009 2009