Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs768608755
PAX3
1.000 0.080 2 222294286 missense variant C/A;T snv 1.2E-05 1
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 4