Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs144900171
SYT1
0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 5
rs1565922388
SYT1
0.925 12 79353599 missense variant T/A snv 5
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv 5
rs1565962725
SYT1
0.925 12 79448953 missense variant C/A snv 5
rs148234606
SLC52A2
0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs754320812
FBXL6 ; SLC52A2
0.925 8 144360427 missense variant T/C snv 2.4E-05 3.5E-05 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins 3
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3