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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.020 0.500 2 2013 2014
dbSNP: rs10118776
rs10118776
IL33 ; LOC107987046
1 1.000 0.080 9 6227418 intron variant G/A snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs116427960
rs116427960
HLA-B
3 0.925 0.120 6 31351449 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12200782
rs12200782
BTN3A1
1 1.000 0.080 6 26402808 intron variant C/G snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs140013431
rs140013431
BMP6
1 1.000 0.080 6 7770278 intron variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17185553
rs17185553
ADAMTSL1
1 1.000 0.080 9 17934122 intron variant G/C snv 6.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs1778335
rs1778335
PIP4K2A
1 1.000 0.080 10 22643219 intron variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs3124599
rs3124599
NOTCH1
5 0.851 0.080 9 136509318 intron variant G/A snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs3134425
rs3134425
CRTAM
1 1.000 0.080 11 122838470 intron variant T/C snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs36600
rs36600
MTMR3
5 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs4513061
rs4513061
AGBL1
6 0.807 0.080 15 86428401 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6790167
rs6790167
TP63
5 0.827 0.080 3 189869485 intron variant A/G snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs7519667
rs7519667
WDR64
1 1.000 0.080 1 241722005 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs8049634
rs8049634
ADAD2 ; LOC654780
1 1.000 0.080 16 84192073 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs9308062
rs9308062
TMA16
1 1.000 0.080 4 163517048 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs942190
rs942190
TDP1 ; EFCAB11
2 1.000 0.080 14 89956320 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs4324798
rs4324798 		8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs141670911
rs141670911 		1 1.000 0.080 6 26581030 intergenic variant A/T snv 7.3E-02 0.700 1.000 1 2017 2017