Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27