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: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
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: rs121908683
rs121908683
PLA2G6
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
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: rs760743322
rs760743322
APP
4 1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs137852968
rs137852968
PANK2 ; MIR103A2
3 0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 0.700 0
dbSNP: rs1057519279
rs1057519279
KMT2B
3 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519281
rs1057519281
KMT2B
3 1.000 19 35721775 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs146170087
rs146170087
C19orf12
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.710 1.000 1 2018 2018
dbSNP: rs397514477
rs397514477
C19orf12
5 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs761104644
rs761104644
ZNF415
2 19 53109614 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1555731819
rs1555731819
KMT2B
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs515726205
rs515726205
C19orf12
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs786205861
rs786205861
GCDH
3 1.000 0.120 19 12896913 missense variant C/T snv 0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
dbSNP: rs753374463
rs753374463
GNAL
2 18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 0
dbSNP: rs113371321
rs113371321
NPC1
1 18 23534477 missense variant G/A;C snv 1.2E-04 0.700 0
dbSNP: rs11655081
rs11655081
ARSG
7 0.851 0.080 17 68386068 intron variant T/C snv 0.18 0.010 1.000 1 2019 2019