Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6963345
ZKSCAN1
7 100020983 intron variant G/A;C snv 1
rs415430
WNT3 ; LRRC37A2
1.000 0.040 17 46781778 intron variant C/T snv 0.84 3
rs3117116
TSBP1-AS1 ; BTNL2
1.000 0.040 6 32399240 intron variant G/A snv 0.87 2
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 7
rs3793964
TOLLIP
0.882 0.120 11 1280752 intron variant T/C snv 0.66 4
rs3168046
TOLLIP
11 1275419 3 prime UTR variant G/A snv 0.42 1
rs3829223
TOLLIP
11 1279176 intron variant C/T snv 0.49 1
rs5744034
TOLLIP
11 1275007 3 prime UTR variant A/G snv 0.13 1
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13 19
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs2853672
TERT
0.882 0.080 5 1292868 intron variant C/A;G snv 4
rs11191865
STN1
0.925 0.160 10 103913084 intron variant G/A snv 0.44 3
rs1980653
STN1
10 103894406 intron variant A/G snv 0.44 1
rs2067832
STN1
10 103883376 intron variant G/A snv 0.44 1
rs201933678
SFTPC ; BMP1
8 22163196 stop gained C/A snv 1.6E-05 2.1E-05 1
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs121917836
SFTPC
0.882 0.040 8 22162727 missense variant G/A snv 4
rs200039720
SFTPC
0.925 0.080 8 22162688 missense variant G/A snv 1.5E-04 1.0E-04 3
rs1130866
SFTPB
0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 9
rs1322403577
SFTPA1
0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 4
rs749885909
RMDN2-AS1 ; RMDN2
2 38004143 missense variant C/G;T snv 4.0E-06; 4.0E-06 1