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: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 2 2019 2019
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs3791679
rs3791679
EFEMP1 ; LOC112268416
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs550057
rs550057
ABO
11 0.925 0.080 9 133271182 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 2 2017 2019
dbSNP: rs75686861
rs75686861
HHIP
10 0.790 0.080 4 144700176 intron variant G/A snv 6.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs2869966
rs2869966
FAM13A ; LOC105377327
9 1.000 0.040 4 88947927 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs2145272
rs2145272 		8 20 6645571 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs34811474
rs34811474
ANAPC4
8 1.000 0.040 4 25407216 missense variant G/A;T snv 0.15; 4.1E-06 0.700 1.000 1 2019 2019
dbSNP: rs2294214
rs2294214
CASC15
6 0.882 0.040 6 22056694 splice region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs72681869
rs72681869
SOS2
6 14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.700 1.000 2 2019 2019
dbSNP: rs2812208
rs2812208
DLEU1
5 13 50132951 intron variant G/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs34712979
rs34712979
NPNT
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 2 2017 2019
dbSNP: rs11012732
rs11012732
MLLT10
5 0.882 0.080 10 21541175 intron variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs11722225
rs11722225
INTS12 ; GSTCD
5 4 105845273 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs442177
rs442177
AFF1
5 4 87109109 intron variant G/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.700 1.000 2 2019 2019
dbSNP: rs1513272
rs1513272
JAZF1
4 7 28160478 intron variant C/T snv 0.40 0.700 1.000 2 2019 2019
dbSNP: rs11264341
rs11264341
TRIM46
4 0.925 0.120 1 155179017 intron variant C/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs117068593
rs117068593
RIN3
4 14 92651884 missense variant C/T snv 0.13 0.11 0.700 1.000 1 2015 2015
dbSNP: rs12198986
rs12198986 		4 6 7719826 regulatory region variant G/A snv 0.37 0.700 1.000 1 2019 2019