Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs188635171 12 7225691 intergenic variant G/A;C snv 8.0E-03 1
rs174565
FADS1 ; FADS2
11 61824164 intron variant C/G snv 0.15 1
rs72848293
LOC105371891
17 74318710 downstream gene variant G/A;T snv 1
rs146167165
PRKN
6 162633261 intron variant C/T snv 1.5E-02 1
rs192386132
TACC2
10 122178340 intron variant G/A snv 8.2E-04 1
rs113940640
ZCCHC7
9 37228393 intron variant T/A;C snv 6.9E-02 1
rs12325540
ZFHX3
16 73346464 intron variant C/T snv 0.18 1