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: rs12508721
rs12508721
IL21-AS1
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs12628
rs12628
HRAS ; LRRC56
10 0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34 0.010 1.000 1 2013 2013
dbSNP: rs12769288
rs12769288
MGMT
3 0.882 0.080 10 129488086 intron variant C/T snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
9 0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs13143866
rs13143866
IL21 ; IL21-AS1
4 0.851 0.200 4 122619603 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1365943053
rs1365943053
PTCH1
3 0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1443434
rs1443434
FOXE1
4 0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs145475805
rs145475805
TG
4 0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs1503185
rs1503185
PTPRJ
8 0.807 0.120 11 48125070 missense variant G/A snv 0.18 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2004 2004
dbSNP: rs17849071
rs17849071
PIK3CA
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.667 6 2012 2019
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1800858
rs1800858
RET
4 0.851 0.160 10 43100520 synonymous variant A/C;G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs180414
rs180414
SLC38A4
3 0.882 0.080 12 46775115 synonymous variant A/G snv 3.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.050 1.000 5 2009 2015
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs1946519
rs1946519
IL18
4 0.851 0.120 11 112164784 intron variant A/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs2060793
rs2060793
CYP2R1
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2145418
rs2145418 		3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008