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
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del 10
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1553517323
COL5A2
1.000 2 189085204 missense variant C/A snv 4
rs1559320299
PAX3 ; CCDC140
0.925 0.160 2 222297043 missense variant T/A snv 4