Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 37
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1057518887
SEPSECS
0.925 0.160 4 25156851 splice region variant C/T snv 7
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 6
rs1555642784
CNTNAP1
0.851 0.160 17 42688979 frameshift variant -/C delins 5
rs1569044747
IL2RB
0.882 0.120 22 37139219 stop gained G/A snv 5
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del 4
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins 4
rs1563406024
FZD3
0.851 0.240 8 28555799 frameshift variant -/A delins 4
rs267607038
SETBP1
0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 4
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 3
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 3
rs1568069621
PIEZO2
0.925 0.080 18 10797517 stop gained G/A snv 3
rs749355583
ADGRG6
0.925 0.080 6 142309560 stop gained C/G;T snv 4.1E-06 2
rs793888524
ADGRG6
0.925 0.080 6 142405702 frameshift variant -/G delins 2
rs793888525
ADGRG6
0.925 0.080 6 142408187 missense variant T/A snv 2
rs886041709
ASPM
1.000 0.080 1 197125045 splice donor variant C/G snv 2
rs552094593
GBE1
1.000 0.080 3 81537021 missense variant G/A;T snv 8.9E-06 2
rs750803388
GLDN
1.000 0.080 15 51404526 missense variant C/A snv 2.4E-05 2.8E-05 2
rs375218091
RAPSN
1.000 0.080 11 47448071 missense variant C/A;T snv 1.6E-05; 8.0E-06 2
rs117134265
ROR2
1.000 0.080 9 91724819 missense variant C/G;T snv 4.0E-06; 3.4E-04 2
rs145631389
ROR2
1.000 0.080 9 91733251 missense variant T/A;C snv 1.7E-04 2
rs200546266
RYR1
1.000 0.080 19 38477821 missense variant C/A;T snv 4.0E-06; 1.4E-04 2
rs587784379
RYR1
1.000 0.080 19 38516111 missense variant C/G snv 2.8E-05 2