Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs1556445736
COL4A5
0.925 0.200 X 108667167 synonymous variant A/G snv 5
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs104886308
COL4A5
0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 2
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 2
rs3766379
CD244
0.851 0.320 1 160837925 intron variant T/C snv 0.57 1
rs1053874
DNASE1 ; TRAP1
0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 1
rs12150220
NLRP1
0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 1
rs5744168
TLR5
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 1