Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 11
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 3
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25