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: rs669661
rs669661
PRG3
1 11 57380702 missense variant A/G snv 0.99 0.96 0.700 1.000 1 2013 2013
dbSNP: rs783396
rs783396
CRYBG1
2 1.000 0.080 6 106539495 missense variant A/C snv 0.93 0.93 0.010 1.000 1 2012 2012
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2015 2015
dbSNP: rs650439
rs650439
KL
3 1.000 0.080 13 33061802 intron variant T/A snv 0.82 0.81 0.010 1.000 1 2018 2018
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2014 2014
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.010 1.000 1 2016 2016
dbSNP: rs2986017
rs2986017
CALHM1
6 0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80 0.010 1.000 1 2011 2011
dbSNP: rs10848683
rs10848683
CACNA1C ; CACNA1C-AS1
1 12 2681964 missense variant C/T snv 4.0E-06; 0.78 0.71 0.010 1.000 1 2018 2018
dbSNP: rs11628722
rs11628722
SERPINA9
1 14 94464768 missense variant A/G snv 0.78 0.71 0.010 1.000 1 2008 2008
dbSNP: rs42524
rs42524
COL1A2
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.780 0.875 8 2007 2018
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 0.500 2 2000 2014
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 1.000 3 2014 2017
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2002 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2012 2016
dbSNP: rs2229383
rs2229383
ILF3
2 1.000 0.080 19 10683954 synonymous variant G/A;C;T snv 4.0E-06; 0.68 0.700 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2011 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs4636297
rs4636297
EGFL7 ; MIR126
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2019 2019
dbSNP: rs218966
rs218966
PHF14
2 7 10982603 missense variant A/G snv 0.64 0.68 0.700 1.000 1 2013 2013
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.020 1.000 2 2017 2020
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1480544
rs1480544
AADAT ; LOC107986326
1 4 170066485 splice region variant A/G;T snv 0.57; 4.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs5070
rs5070
APOA1 ; APOA1-AS
5 0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60 0.010 1.000 1 2017 2017