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: rs397517097
rs397517097
EGFR
4 0.851 0.080 7 55174777 missense variant T/C snv 0.700 1.000 2 2012 2013
dbSNP: rs10146472
rs10146472
NPAS3
1 1.000 0.080 14 33545815 intron variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs10174077
rs10174077
NEB
1 1.000 0.080 2 151625198 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1057519789
rs1057519789
DDR2
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1057519790
rs1057519790
DDR2
1 1.000 0.080 1 162778617 missense variant G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519791
rs1057519791
FGFR2
1 1.000 0.080 10 121518810 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10849605
rs10849605
RAD52
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs1108581
rs1108581
DBH
3 1.000 0.080 9 133640119 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs111960002
rs111960002
ZNF623
1 1.000 0.080 8 143640250 intron variant T/C snv 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs112233273
rs112233273 		1 1.000 0.080 1 160908636 intergenic variant G/A snv 4.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs114242735
rs114242735
GPX6
1 1.000 0.080 6 28515140 intron variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114274879
rs114274879
VARS2
1 1.000 0.080 6 30914638 5 prime UTR variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114665747
rs114665747 		1 1.000 0.080 6 32231204 intergenic variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114937304
rs114937304
TSBP1 ; TSBP1-AS1
1 1.000 0.080 6 32373094 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs114951367
rs114951367
HLA-DMB
1 1.000 0.080 6 32936274 non coding transcript exon variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115390513
rs115390513 		1 1.000 0.080 6 31208169 downstream gene variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116043036
rs116043036 		1 1.000 0.080 6 28237041 downstream gene variant A/G snv 5.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs116310021
rs116310021 		1 1.000 0.080 6 30383571 intergenic variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116418332
rs116418332
TRIM26
2 0.925 0.080 6 30193759 intron variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs116461399
rs116461399 		2 0.925 0.080 6 28828294 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs116480994
rs116480994
ZNRD1
2 0.925 0.080 6 30064745 3 prime UTR variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116725014
rs116725014
MUC22
1 1.000 0.080 6 31018051 intron variant G/A snv 0.700 1.000 1 2017 2017