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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs1353428252
rs1353428252
IDH2
5 0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2231231
rs2231231
AQP3
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.333 3 2004 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2017
dbSNP: rs1042752
rs1042752
POU2AF1
3 0.925 0.120 11 111352386 3 prime UTR variant A/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11466782
rs11466782
ADAM19
3 0.925 0.120 5 157494947 intron variant A/G snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1257715362
rs1257715362
MAPK10 ; ARHGAP24
3 0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs2304240
rs2304240
ICAM3
4 0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 0.010 1.000 1 2011 2011
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs708486
rs708486
PTGDR
3 0.925 0.120 14 52274253 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs9461776
rs9461776
HLA-DRB1
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs995922697
rs995922697
GPX1
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2017 2017
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10494879
rs10494879
IL19
3 0.925 0.120 1 206778859 intron variant C/A;G snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2013 2017
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2011 2011