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: rs121918664
rs121918664
TERT
4 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1227756
rs1227756
COL13A1
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 14 2011 2018
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs13419896
rs13419896
EPAS1
8 0.776 0.240 2 46329206 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1346044973
rs1346044973
TERT
4 0.851 0.160 5 1294158 missense variant G/A snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1358379
rs1358379
LINC00472 ; MIR30A
3 0.882 0.160 6 71403739 intron variant T/C snv 6.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs137853590
rs137853590
PHKG2
3 0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1396171148
rs1396171148
FARSB
5 0.851 0.200 2 222613892 missense variant T/G snv 0.700 0
dbSNP: rs1419129874
rs1419129874
FARSB
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1431315635
rs1431315635
HFE ; LOC108783645
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs1466642025
rs1466642025
FARSB
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1469557
rs1469557
LOC101929248
2 0.925 0.120 8 10849291 downstream gene variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1485766
rs1485766
VEGFC ; LOC105377555
3 0.882 0.120 4 176689730 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1545224
rs1545224
FABP1
2 0.925 0.120 2 88124297 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1553553086
rs1553553086
FARSB
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1553554543
rs1553554543
FARSB
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 0
dbSNP: rs1682111
rs1682111
ACYP2
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.010 1.000 1 2019 2019