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: rs765069734
rs765069734
ADRA2B
1 1.000 0.080 2 96115436 synonymous variant G/A;C snv 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs79402775
rs79402775
ATF2 ; MIR933
5 0.827 0.200 2 175167648 mature miRNA variant G/A;T snv 4.4E-02; 1.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs949963
rs949963
IL1R1
3 0.925 0.160 2 102153326 intron variant C/T snv 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs996807218
rs996807218
KIDINS220
4 0.882 0.080 2 8827045 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1025689
rs1025689
IL17RB
1 1.000 0.080 3 53849695 synonymous variant C/A;G;T snv 8.0E-06; 0.56 0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs149959485
rs149959485
CXCR6 ; FYCO1
1 1.000 0.080 3 45947356 missense variant G/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs966513
rs966513
EPHB1 ; LOC102724019
1 1.000 0.080 3 135147609 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs9858271
rs9858271
LOC105377110
2 0.925 0.080 3 59559604 intron variant G/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs11466653
rs11466653
TLR10
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1486830727
rs1486830727
EDNRA
1 1.000 0.080 4 147532671 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800812
rs1800812
PDGFRA
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1874564
rs1874564
LOC105377294 ; LOC107986291
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs3924194
rs3924194
UGT2B7
3 0.882 0.120 4 69105374 intron variant C/G snv 9.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs6554162
rs6554162
PDGFRA
1 1.000 0.080 4 54227788 intron variant G/A snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs7441774
rs7441774
UGT2B7
3 0.882 0.120 4 69098836 intron variant G/A snv 0.58 0.010 1.000 1 2019 2019
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 0.040 0.750 4 2008 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.030 1.000 3 2016 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2019 2019
dbSNP: rs140451238
rs140451238
ITK
2 1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs2735943
rs2735943
TERT
1 1.000 0.080 5 1295089 upstream gene variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2019 2019
dbSNP: rs33954691
rs33954691
TERT
2 1.000 0.080 5 1255405 synonymous variant G/A snv 0.13 9.0E-02 0.010 1.000 1 2019 2019