Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
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
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 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
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 7
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 6