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: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.050 0.800 5 2005 2009
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.030 0.667 3 2005 2009
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2013
dbSNP: rs3771501
rs3771501
TGFA
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 2 2018 2019
dbSNP: rs10172410
rs10172410
ITGA4
1 1.000 0.040 2 181487841 intron variant T/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11688000
rs11688000
TACR1
1 1.000 0.040 2 75066030 intron variant A/G snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs12618428
rs12618428 		1 1.000 0.040 2 150876465 regulatory region variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs17039192
rs17039192
EPAS1
4 0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2061027
rs2061027
LTBP1
1 1.000 0.040 2 33209269 intron variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs2287047
rs2287047
IL1R1
1 1.000 0.040 2 102157594 intron variant G/A snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs2862851
rs2862851
TGFA
1 1.000 0.040 2 70485670 intron variant T/C snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2015 2015
dbSNP: rs4144782
rs4144782
EN1
2 0.925 0.040 2 118844296 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs419598
rs419598
IL1RN
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2010 2010
dbSNP: rs62174901
rs62174901
SCN3A
1 1.000 0.040 2 165131833 intron variant T/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs62174906
rs62174906
SCN3A
1 1.000 0.040 2 165151847 intron variant A/G snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs62182810
rs62182810
RAPH1
1 1.000 0.040 2 203522759 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2011 2011
dbSNP: rs77245812
rs77245812
MATN3 ; LOC101928222
3 0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs7639618
rs7639618
COL6A4P1
3 0.882 0.080 3 15174922 non coding transcript exon variant C/T snv 0.22 0.18 0.030 0.667 3 2009 2016