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: rs117132860
rs117132860
AHR
1 1.000 0.080 7 17095084 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11715549
rs11715549
LPP
1 1.000 0.080 3 188370330 intron variant C/A;G snv 0.700 1.000 1 2016 2016
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: 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: rs192481803
rs192481803 		1 1.000 0.080 2 35111498 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs199816436
rs199816436
TRPS1
1 1.000 0.080 8 115565487 intron variant TTTTTTT/-;T;TT;TTTTTT;TTTTTTTT delins 2.4E-03 0.700 1.000 1 2016 2016
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: rs74899442
rs74899442 		1 1.000 0.080 11 116019561 intergenic variant T/C snv 3.2E-03 0.700 1.000 1 2016 2016
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: 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
dbSNP: rs1057519880
rs1057519880
IRF3 ; BCL2L12
2 0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519885
rs1057519885
CFAP61 ; CRNKL1
2 0.925 0.080 20 20052443 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs57994353
rs57994353
SEC16A
2 1.000 0.080 9 136462535 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
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: 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: rs786202082
rs786202082
TP53
2 1.000 0.080 17 7673793 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
3 0.882 0.080 6 31972346 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
4 0.851 0.120 7 6387262 missense variant C/T snv 0.700 1.000 1 2016 2016
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: rs868438023
rs868438023
KNSTRN
4 0.882 0.080 15 40382906 missense variant C/T snv 0.700 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: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2016 2016
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