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: rs80358233
rs80358233
TOR1A
2 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 2 1997 1998
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs398122845
rs398122845
CASK
2 1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 0.700 0
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1566687487
rs1566687487
GCH1
1 14 54902537 frameshift variant -/G delins 0.700 0
dbSNP: rs878853161
rs878853161
SLC2A1
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
dbSNP: rs1182
rs1182
TOR1A
9 0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 0.020 1.000 2 2009 2015
dbSNP: rs3842225
rs3842225
TOR1A
6 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 0.020 0.500 2 2015 2017
dbSNP: rs35153737
rs35153737
TOR1A
2 9 129813558 3 prime UTR variant C/- del 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
1 11 2171856 5 prime UTR variant C/T snv 7.0E-06 0.700 1.000 2 2007 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs146087734
rs146087734
THAP1
2 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs574658589
rs574658589
HPCA
2 1 32888928 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.710 1.000 8 1991 2014
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.700 1.000 7 1998 2015
dbSNP: rs104893665
rs104893665
SPR
2 1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 0.700 1.000 5 2001 2013
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2009 2015
dbSNP: rs727502811
rs727502811
TOR1A
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2009 2015