Source: CURATED ×
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
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7