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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2011 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2012
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2012
dbSNP: rs121964877
rs121964877
CDH1
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2248462
rs2248462 		10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2273773
rs2273773
SIRT1
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs360719
rs360719
IL18 ; TEX12 ; LOC107987164
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7069102
rs7069102
SIRT1
10 0.790 0.440 10 67903362 intron variant C/G snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs7895833
rs7895833 		12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1432295
rs1432295
LINC01185
1 1.000 0.120 2 60839531 intron variant G/A snv 0.69 0.800 1.000 2 2010 2013
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.800 1.000 2 2012 2013
dbSNP: rs501764
rs501764
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8051071 non coding transcript exon variant G/T snv 0.87 0.86 0.800 1.000 2 2010 2013
dbSNP: rs1046089
rs1046089
PRRC2A
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.700 1.000 1 2013 2013
dbSNP: rs1244186
rs1244186
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8050720 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs13195441
rs13195441 		2 0.925 0.200 6 32775521 intergenic variant G/A snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 < 0.001 1 2013 2013
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2013 2013
dbSNP: rs181997
rs181997 		2 0.925 0.160 6 32932941 downstream gene variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs204993
rs204993
PBX2
5 0.851 0.240 6 32187804 intron variant A/G snv 0.24 0.26 0.700 1.000 1 2013 2013
dbSNP: rs2240064
rs2240064
CCHCR1
1 1.000 0.120 6 31146796 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2242660
rs2242660
PRRC2A
2 0.925 0.160 6 31629976 intron variant G/A snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs2516049
rs2516049
HLA-DRB1
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2013 2013