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: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs4516035
rs4516035
VDR
10 0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs779867
rs779867
GRM7
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs2710102
rs2710102
CNTNAP2
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.020 0.500 2 2011 2013
dbSNP: rs1169089134
rs1169089134
FOLH1
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs3746544
rs3746544
SNAP25 ; SNAP25-AS1
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs3796863
rs3796863
CD38
8 0.790 0.160 4 15848363 intron variant G/T snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.090 1.000 9 2004 2019
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1800561
rs1800561
CD38
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs28364997
rs28364997
SLC6A3
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs879255652
rs879255652
SCN8A
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019