Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
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
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs145588689
ADAR
0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06 4
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 4
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs386834124
CLN8
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 4
rs545986367
CSTB
0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 4
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs754320812
FBXL6 ; SLC52A2
0.925 8 144360427 missense variant T/C snv 2.4E-05 3.5E-05 4
rs5030869
G6PD
0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 4