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: rs2847281
rs2847281
PTPN2
3 1.000 0.040 18 12821594 intron variant A/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs35324266
rs35324266 		1 1.000 0.040 6 32625467 upstream gene variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs3732183
rs3732183
MSH2
1 1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40 0.010 1.000 1 2019 2019
dbSNP: rs4455710
rs4455710
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1 1.000 0.040 6 32641081 intron variant C/T snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs454421
rs454421
KLC3
1 1.000 0.040 19 45341392 intron variant C/G;T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs45549733
rs45549733
GSTP1
1 1.000 0.040 11 67586503 missense variant C/G;T snv 7.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs470558
rs470558
MMP1 ; WTAPP1
1 1.000 0.040 11 102795585 synonymous variant T/C snv 0.92 0.95 0.010 1.000 1 2019 2019
dbSNP: rs4761496
rs4761496 		4 0.851 0.040 12 94733833 regulatory region variant T/A;C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs4785204
rs4785204
HEATR3
2 1.000 0.040 16 50069823 intron variant C/T snv 8.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs532172691
rs532172691
S100A2
1 1.000 0.040 1 153563811 stop gained G/A snv 2.2E-04 3.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs5854
rs5854
MMP1 ; WTAPP1
1 1.000 0.040 11 102790143 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs62209647
rs62209647 		1 1.000 0.040 20 33917852 upstream gene variant G/C snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs62246017
rs62246017
FOXP1
1 1.000 0.040 3 71433933 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6503659
rs6503659 		2 1.000 0.040 17 41741012 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6743068
rs6743068
FLACC1
1 1.000 0.040 2 201289197 intron variant A/G snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs6791479
rs6791479 		1 1.000 0.040 3 189487243 intergenic variant T/A snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs7097008
rs7097008 		1 1.000 0.040 10 67849782 non coding transcript exon variant C/A snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs7250795
rs7250795
ZNF69 ; ZNF763
1 1.000 0.040 19 11978928 missense variant C/G;T snv 4.0E-06; 1.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs7309332
rs7309332 		3 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs74664507
rs74664507 		3 1.000 0.040 9 16913838 upstream gene variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs75790006
rs75790006 		4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs764496629
rs764496629
RAF1
1 1.000 0.040 3 12590859 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs771590775
rs771590775
TERT
1 1.000 0.040 5 1294350 missense variant C/A;G snv 0.010 1.000 1 2018 2018