Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs148696809 0.851 0.160 6 28966575 downstream gene variant T/C snv 5.3E-02 4
rs142618987 0.925 0.080 6 30540143 downstream gene variant A/G snv 2
rs115390513 1.000 0.080 6 31208169 downstream gene variant A/C snv 1
rs116043036 1.000 0.080 6 28237041 downstream gene variant A/G snv 5.2E-03 1
rs185815317
IL1RL2
1.000 0.080 2 102241279 downstream gene variant G/T snv 1.0E-03 1
rs11907546 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 17
rs186507655 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 17
rs13218875 0.925 0.080 6 27916234 upstream gene variant C/T snv 5.0E-02 2
rs147097402
HLA-A
1.000 0.080 6 29930083 upstream gene variant C/A;G;T snv 1
rs28372851
ERLIN1
1.000 0.080 10 100186276 upstream gene variant G/A snv 7.5E-02 1
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs1057519879
PATL2 ; B2M
0.763 0.280 15 44711548 start lost T/C;G snv 10
rs3813565
LOC105370913 ; CHRNB4
0.851 0.080 15 78727268 splice region variant G/A;T snv 6
rs142604597
ESM1
1.000 0.080 5 54981998 splice region variant C/T snv 9.4E-03 8.4E-03 1
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 19
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs56084662
FRY
0.701 0.280 13 32295727 3 prime UTR variant G/A snv 3.5E-03 18
rs116480994
ZNRD1
0.925 0.080 6 30064745 3 prime UTR variant A/C snv 2
rs72754495
IPPK ; CENPP
1.000 0.080 9 92613166 3 prime UTR variant G/A snv 5.2E-03 4.4E-03 1
rs114274879
VARS2
1.000 0.080 6 30914638 5 prime UTR variant C/T snv 1
rs8040868
CHRNA3
0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37 17
rs144433536
TNXB
0.925 0.080 6 32067917 synonymous variant C/A;G;T snv 2
rs1057941
GBAP1
0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18