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: rs707824
rs707824
LOC101928354
3 0.925 0.120 6 14636732 intergenic variant T/C snv 0.74 0.810 1.000 1 2013 2013
dbSNP: rs12289961
rs12289961
OR10Q2P
1 11 58292720 non coding transcript exon variant C/T snv 0.28 0.800 1.000 1 2013 2013
dbSNP: rs2621416
rs2621416 		4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs2647045
rs2647045 		1 6 32700323 TF binding site variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs4530903
rs4530903 		1 6 32614112 intergenic variant C/T snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs6773854
rs6773854
LOC105374265
2 1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs948562
rs948562
ZFP91 ; ZFP91-CNTF
1 11 58580292 intron variant A/G snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.720 1.000 4 2012 2016
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 2 2013 2017
dbSNP: rs1057519833
rs1057519833
EZH2
3 0.925 0.120 7 148809375 missense variant G/C snv 0.710 1.000 2 2012 2012
dbSNP: rs267601395
rs267601395
EZH2
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs273429
rs273429
LOC105375763
1 8 131467654 intergenic variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs869312777
rs869312777
PTEN
3 0.925 0.120 10 87933245 missense variant C/G snv 0.700 0
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.917 12 2013 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2004 2017
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.040 1.000 4 2013 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015