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: rs4917
rs4917
AHSG
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2015 2015
dbSNP: rs235768
rs235768
BMP2
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs1049007
rs1049007
BMP2
1 1.000 0.040 20 6770387 synonymous variant A/C;G snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 4 2011 2018
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 7 2007 2013
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs5215
rs5215
KCNJ11
7 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.700 1.000 1 2011 2011
dbSNP: rs2291832
rs2291832
MIA3
1 1.000 0.040 1 222653139 intron variant G/A;C snv 0.64; 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs11582300
rs11582300
NES
1 1.000 0.040 1 156669961 synonymous variant G/A;C snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2016 2017
dbSNP: rs1208
rs1208
NAT2
8 0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.070 1.000 7 1998 2019
dbSNP: rs1904589
rs1904589
NODAL
2 1.000 0.040 10 70435683 missense variant T/C snv 0.62 0.56 0.010 1.000 1 2013 2013
dbSNP: rs7195830
rs7195830
CYBA
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2016 2016
dbSNP: rs440446
rs440446
APOE
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2241820
rs2241820
HOXC6 ; HOXC9 ; HOXC-AS1
1 1.000 0.040 12 54000713 synonymous variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
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 2009 2019
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.030 0.333 3 2013 2018
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2009 2009
dbSNP: rs3746731
rs3746731
CD93
2 0.925 0.040 20 23084572 missense variant G/A snv 0.57 0.50 0.010 1.000 1 2008 2008
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2009 2009
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.950 20 1997 2016