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: rs968910165
rs968910165
NCAM2
1 21 21286370 missense variant A/G;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs930549037
rs930549037
COL9A2
1 1 40301333 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs887386390
rs887386390
L2HGDH
3 0.925 0.120 14 50283990 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs879255652
rs879255652
SCN8A
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs879255635
rs879255635
ZBTB20
1 3 114339384 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs878854402
rs878854402
TBL1XR1
6 0.851 0.280 3 177033050 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs869320632
rs869320632
LMAN2L
4 0.925 0.040 2 96739883 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs869312966
rs869312966
SCN8A
7 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs864309721
rs864309721
CDC42
2 1.000 1 22086451 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs864309503
rs864309503
MORC2
5 0.882 0.200 22 30941503 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs863225264
rs863225264
MTOR
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs80338758
rs80338758
MED12
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs796052676
rs796052676
KCNQ3
10 0.807 0.200 8 132180246 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs786201003
rs786201003
NALCN
3 0.925 0.080 13 101083752 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs781908532
rs781908532
SLC25A1
8 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs781442277
rs781442277
CENPO ; PTRHD1 ; LOC105369164
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs774843232
rs774843232
PGAP2
9 0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs770896677
rs770896677
TMTC3
2 1.000 0.080 12 88153313 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs768746587
rs768746587
POU5F1 ; TCF19
3 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs768560449
rs768560449
IMMT
2 1.000 0.160 2 86166521 missense variant A/G snv 8.1E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762578331
rs762578331
UPF3B
3 0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs761249181
rs761249181
COL9A1
1 6 70252139 missense variant C/T snv 1.6E-05 0.010 1.000 1 2011 2011