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
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29