Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 4
rs104894884
NDUFA1 ; RNF113A
0.882 0.040 X 119871933 missense variant G/C snv 4
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1057516038
KIAA0586
0.925 14 58444158 stop gained C/A;T snv 5
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins 7
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 7
rs1057517718
CLCN7
0.882 0.160 16 1447498 missense variant T/C snv 4
rs1057517846
WWOX
1.000 16 78108446 stop gained G/A snv 2
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057518699
LAS1L
0.925 0.200 X 65524113 missense variant G/A snv 2
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1057518776
DYNC1H1
0.925 0.080 14 101986027 missense variant T/A snv 4
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv 2
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3