Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22