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: rs1059572
rs1059572
HLA-DRB1
1 1.000 0.080 6 32584314 missense variant G/A;C;T snv 1.1E-02; 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1416033282
rs1416033282
SEM1 ; LOC105375411
1 1.000 0.080 7 96486287 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs17247181
rs17247181
ERBIN
1 1.000 0.080 5 65959844 intron variant C/T snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017
dbSNP: rs28535317
rs28535317 		1 1.000 0.080 6 32621288 regulatory region variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs587777005
rs587777005
LGR4
4 0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs7164132
rs7164132
KNSTRN
2 0.925 0.080 15 40382954 missense variant C/A snv 9.2E-02 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs7208422
rs7208422
TMC8
6 0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 0.010 < 0.001 1 2014 2014
dbSNP: rs754626
rs754626
SRC
2 0.925 0.080 20 37388937 intron variant T/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs773919809
rs773919809
MGMT
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs778241955
rs778241955
TSPAN8 ; LGR5
1 1.000 0.080 12 71440178 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs786202082
rs786202082
TP53
2 1.000 0.080 17 7673793 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs916977
rs916977
HERC2
5 1.000 0.080 15 28268218 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs9643297
rs9643297
ST3GAL1
1 1.000 0.080 8 133471452 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs9689649
rs9689649
PRKN
1 1.000 0.080 6 161680146 intron variant A/C;T snv 0.010 1.000 1 2016 2016