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: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs1567941252
rs1567941252
PCGF2
10 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
7 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs201439531
rs201439531
CHAT
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs397515415
rs397515415
HDAC8
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
dbSNP: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs769234940
rs769234940
CHAT
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0