Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1423415130
XYLT2
0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 6
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs11574311
WRN
0.776 0.160 8 31119144 intron variant T/C snv 0.16 8
rs2725338
WRN
0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 7
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv 6
rs2725383
WRN
0.807 0.120 8 31075099 intron variant C/G snv 0.76 6
rs4733220
WRN
0.807 0.120 8 31043374 intron variant A/G snv 0.50 6
rs1305547785
VIM ; VIM-AS1
1.000 0.040 10 17229759 missense variant C/T snv 1
rs370424081
UNC45B
0.925 0.040 17 35183460 missense variant C/G;T snv 6.2E-05 2
rs5030732
UCHL1 ; UCHL1-AS1
0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 10
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs2101521
TLR1
0.925 0.080 4 38809930 intron variant G/A;T snv 3
rs17047586
TAFA1
0.925 0.120 3 68363724 intron variant A/G snv 8.6E-03 2
rs778791846
SMO
0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 4
rs33972313
SLC23A1
0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 8
rs6596473
SLC23A1
0.807 0.120 5 139374887 intron variant G/C;T snv 7
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs375713569
SDS
0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05 2
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs11129182
RARB
0.925 0.120 3 25129806 intron variant T/C snv 0.82 2
rs644242
PAX6
0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 3
rs761738142
NOL3 ; HSF4
0.925 0.200 16 67169060 stop gained C/A;T snv 8.0E-06; 4.0E-06 2
rs80338829
MYH9
0.851 0.200 22 36295069 missense variant G/A snv 5