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: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs104894700
rs104894700
KCNC3
2 0.925 0.200 19 50323609 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057516048
rs1057516048
NSD1
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1429108797
rs1429108797
ARHGEF9
1 1.000 0.160 X 63638143 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs202247813
rs202247813
GLRA1 ; LOC112267935
2 1.000 0.160 5 151855144 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs786200963
rs786200963
CACNA1A
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs794729664
rs794729664
PTEN
3 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs797044872
rs797044872
KCNC3
3 0.882 0.200 19 50323685 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs797045140
rs797045140
IQSEC2
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1060505029
rs1060505029
TAF13
5 0.882 0.240 1 109066220 missense variant A/T snv 0.700 0
dbSNP: rs1060505030
rs1060505030
TAF13
4 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
3 0.925 0.160 2 166046970 missense variant G/A;T snv 0.700 0
dbSNP: rs1239725461
rs1239725461
SCAPER
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0