Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs199422173
ASPM
0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 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
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 6
rs1064793829
GATAD2B
0.882 0.160 1 153816571 frameshift variant A/- delins 5
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs199422151
ASPM
0.882 0.120 1 197125190 stop gained G/A;T snv 4.0E-06; 1.6E-05 4
rs199422152
ASPM
0.882 0.120 1 197125161 stop gained C/T snv 4
rs571640983
MFSD2A
0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 4
rs1135401733
HNRNPU
1.000 0.040 1 244856757 stop gained G/A snv 3
rs202060209
SLC2A1
0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05 3
rs1057519392
POGZ
1.000 0.160 1 151412348 missense variant A/G snv 2
rs1135401770
ZBTB18
1.000 1 244053916 stop gained C/G;T snv 2