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: rs2242241
rs2242241
DOK2
2 0.925 0.200 8 21909370 missense variant A/C snv 1.0E-02 7.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs2647073
rs2647073
HLA-DRB1
1 1.000 0.080 6 32606237 intergenic variant A/C snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs3859501
rs3859501
MIR371A ; MIR372 ; MIR373 ; MIR371B
3 0.882 0.120 19 53788157 non coding transcript exon variant A/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs4309483
rs4309483 		2 0.925 0.120 18 58418685 downstream gene variant A/C snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs6568431
rs6568431
ATG5
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.010 1.000 1 2019 2019
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs7628626
rs7628626
CD80 ; TIMMDC1
2 0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 0.010 < 0.001 1 2019 2019
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs7719521
rs7719521
SPARC
3 0.882 0.120 5 151669843 intron variant A/C snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs7959378
rs7959378
TFCP2
2 1.000 0.080 12 51173447 upstream gene variant A/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1413975856
rs1413975856
CTNNB1
1 1.000 0.080 3 41224579 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs17006625
rs17006625
KAT2B
3 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 0.020 1.000 2 2012 2016
dbSNP: rs3803012
rs3803012
RAN
1 1.000 0.080 12 130876170 3 prime UTR variant A/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1997623
rs1997623
CAV1
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs2239186
rs2239186
VDR
5 0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs3751862
rs3751862
MPHOSPH6
1 1.000 0.080 16 82148624 3 prime UTR variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs3935401
rs3935401
SDHC
1 1.000 0.080 1 161363768 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs41277434
rs41277434
EZH2
6 0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs455804
rs455804
GRIK1
1 1.000 0.080 21 29773850 intron variant A/C;G snv 0.810 1.000 1 2012 2012
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 0
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.800 1.000 2 2005 2016
dbSNP: rs6078460
rs6078460 		1 1.000 0.080 20 12116249 intergenic variant A/C;G;T snv 0.700 1.000 2 2019 2019