Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6