Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139751598
rs139751598
PYCR1
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
8 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs376754460
rs376754460
PMM2
12 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs755604487
rs755604487
PHIP
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs768608755
rs768608755
PAX3
1 1.000 0.080 2 222294286 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1568269273
rs1568269273
NFIX
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs869312873
rs869312873
NALCN
5 0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519443
rs1057519443
MPP4
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs1555570093
rs1555570093
MPDU1
12 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
dbSNP: rs1555570110
rs1555570110
MPDU1
9 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
dbSNP: rs1555247805
rs1555247805
MED13L
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
6 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs148677674
rs148677674
LZTR1
3 0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 0.700 0
dbSNP: rs758361736
rs758361736
KIF7
16 0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 0.700 0
dbSNP: rs587777449
rs587777449
IFIH1
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
9 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs1556912828
rs1556912828
HUWE1
6 0.925 0.280 X 53536209 missense variant G/C snv 0.700 0