Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 9
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 8
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 8
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs6475
CYP21A2
0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv 7
rs864622269
ATL1
0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 6
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 5
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs879253888
KIF1A
0.851 0.120 2 240783777 missense variant G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5