Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1982151
RMI1
0.807 0.120 9 84002350 missense variant A/G;T snv 0.73 9
rs1359132498
UTS2R
1.000 0.040 17 82374361 missense variant G/A snv 1
rs200476704
TRAPPC1 ; CNTROB ; KCNAB3
1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05 1
rs1024708183
MAP2K7
0.925 0.040 19 7909761 missense variant A/G snv 4
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs2036534
HYKK
0.827 0.080 15 78534606 3 prime UTR variant T/C snv 0.26 8
rs5352
EDNRB ; EDNRB-AS1
0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02 5
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv 11
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1453167097
TP53
0.925 0.080 17 7675172 missense variant A/C snv 2
rs137852789
TP53
0.925 0.080 17 7675152 missense variant C/G;T snv 4.0E-06 3.5E-05 3
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 8
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 21
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs770374782
TP53
0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 6
rs749817236
TP53
1.000 0.040 17 7669624 frameshift variant C/- delins 1
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs765095939
TERF2IP
1.000 0.040 16 75656501 stop gained C/T snv 2.0E-05 1.4E-05 1
rs2981096
TERF1
1.000 0.040 8 73027927 intron variant A/G snv 3.1E-02 1
rs1155563
GC
0.925 0.080 4 71777771 intron variant T/A;C snv 4