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: 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: 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: 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: rs74664507
rs74664507 		3 1.000 0.040 9 16913838 upstream gene variant T/A snv 0.700 1.000 1 2016 2016
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
dbSNP: rs773132865
rs773132865
RNF40 ; ZNF629
1 1.000 0.040 16 30783312 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs774121564
rs774121564
ACP1
1 1.000 0.040 2 275197 missense variant C/G snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs779759678
rs779759678
MLH1 ; EPM2AIP1
1 1.000 0.040 3 36993556 missense variant C/G snv 4.0E-06 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs8063761
rs8063761
DEF8
1 1.000 0.040 16 89961218 intron variant A/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs865005
rs865005
PTENP1 ; PTENP1-AS
1 1.000 0.040 9 33677060 non coding transcript exon variant G/A snv 4.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs879576
rs879576
IL17RA
1 1.000 0.040 22 17108356 missense variant G/A;C snv 0.11 0.010 1.000 1 2015 2015