Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 14
rs80338962
SCN4A
0.742 0.240 17 63941508 missense variant T/C snv 13
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11
rs80338958
SCN4A
0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05 9
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06 7
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06 7
rs80338792
SCN4A
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 7
rs886041805
SCN4A
0.790 0.160 17 63941506 missense variant C/A;T snv 7
rs1064794243
SCN4A
0.851 0.200 17 63941169 missense variant A/T snv 5
rs121908545
SCN4A
0.851 0.160 17 63941939 missense variant C/A;G;T snv 5
rs121908548
SCN4A
0.851 0.160 17 63941517 missense variant C/T snv 4
rs990388342
CACNA1S
0.882 0.160 1 201083222 missense variant T/C snv 3
rs80338956
LOC105371858 ; SCN4A
0.882 0.160 17 63957460 missense variant A/G snv 3
rs121908544
SCN4A
0.882 0.160 17 63941940 missense variant G/A;T snv 3
rs121908546
SCN4A
0.882 0.120 17 63951866 missense variant G/A;C snv 6.1E-06 3
rs121908551
SCN4A
0.882 0.160 17 63944708 missense variant C/T snv 7.0E-06 3
rs774843953
CLCN1
0.925 0.120 7 143332755 missense variant T/C snv 8.0E-06 2
rs121908550
SCN4A
0.925 0.160 17 63941984 missense variant A/C snv 2
rs121908559
SCN4A
0.925 0.120 17 63941854 missense variant C/T snv 4.0E-06 2
rs121908561
SCN4A
0.925 0.120 17 63972197 missense variant T/C snv 2
rs775539496
DYSF
1.000 0.080 2 71556014 missense variant C/T snv 1.0E-04 7.7E-05 1