Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs150129663
ACO2
22 41518528 missense variant C/T snv 1.6E-05 2.1E-05 1
rs1555890974
ACO2 ; POLR3H
22 41527919 frameshift variant AG/- del 1
rs145588689
ADAR
0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06 4
rs779357448
ADAR
0.925 0.080 1 154590246 frameshift variant CT/- del 8.0E-06 1.4E-05 3
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs1553732126
ADCY5
3 123347875 frameshift variant -/G delins 2
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs779340209
ADNP
20 50892501 stop gained G/C snv 1
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs1554380093
AP4M1
7 100105098 missense variant G/A snv 1
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs864622269
ATL1
0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 6
rs119476050
ATL1
1.000 0.080 14 50628154 missense variant C/T snv 4.0E-06 2
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs1553245178
ATP1A2
1 160130548 missense variant G/A snv 1
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs200891944
ATP1A3
19 41981976 missense variant C/A;T snv 1
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs1553597538
BCS1L
2 218662571 frameshift variant CT/- delins 1
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6