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: 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: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.060 1.000 6 2009 2013
dbSNP: rs10011540
rs10011540
UCP1
1 1.000 0.080 4 140568842 5 prime UTR variant T/G snv 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs10011838
rs10011838 		3 1.000 0.080 4 152599127 intergenic variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10012946
rs10012946
WFS1
1 1.000 0.080 4 6291623 intron variant T/C snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs1002630
rs1002630
CHN2
2 0.925 0.160 7 29388454 intron variant G/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs10034465
rs10034465
LINC02484
2 1.000 0.080 4 34193882 intron variant G/A snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2018 2018
dbSNP: rs10077431
rs10077431
YTHDC2
1 1.000 0.080 5 113591989 splice region variant C/A snv 0.15 0.16 0.700 1.000 1 2018 2018
dbSNP: rs10087241
rs10087241
PURG
1 1.000 0.080 8 31006206 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs1009358
rs1009358
LINC02245 ; LINC02576 ; LOC107984063
2 1.000 0.080 2 65049318 intron variant T/C snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10100265
rs10100265
PINX1
1 1.000 0.080 8 10775649 intron variant A/C snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs10114341
rs10114341
LOC107987099
1 1.000 0.080 9 94156900 non coding transcript exon variant T/C snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1011754
rs1011754
UBE2E2
1 1.000 0.080 3 23499566 intron variant A/G snv 4.2E-02 2.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs10146997
rs10146997
NRXN3
6 0.827 0.240 14 79478819 intron variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs10169613
rs10169613
MIR4435-2HG
1 1.000 0.080 2 111177400 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1017568
rs1017568
GLIS3
1 1.000 0.080 9 3948365 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 < 0.001 1 2018 2018
dbSNP: rs10184004
rs10184004 		5 1.000 0.080 2 164651879 downstream gene variant C/T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs10189773
rs10189773
ARHGAP15
1 1.000 0.080 2 143138931 intron variant A/G snv 0.20 0.700 1.000 1 2007 2007
dbSNP: rs10190052
rs10190052 		1 1.000 0.080 2 646674 intergenic variant T/C snv 0.82 0.800 1.000 1 2014 2014
dbSNP: rs10195252
rs10195252
COBLL1
7 0.925 0.080 2 164656581 intron variant T/C snv 0.48 0.810 1.000 3 2012 2019
dbSNP: rs10203174
rs10203174
THADA
1 1.000 0.080 2 43462891 intron variant C/T snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs1020731
rs1020731
RBMS1
2 1.000 0.080 2 160287544 intron variant G/A snv 0.69 0.700 1.000 1 2010 2010