Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 2
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43