Source: ALL
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
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 8