Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv 10
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 8
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 7
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins 7