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
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs387906819
GATA6
0.882 0.120 18 22181517 missense variant G/A snv 6