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: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
6 0.827 0.160 19 13303584 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
1 9 128203597 missense variant G/A snv 0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
2 1.000 9 128203604 missense variant G/A snv 0.700 1.000 38 1983 2017
dbSNP: rs1554774587
rs1554774587
DNM1
2 1.000 9 128222543 missense variant G/A snv 0.700 1.000 38 1983 2017
dbSNP: rs147001633
rs147001633
DNMT3A
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
dbSNP: rs1553583712
rs1553583712
SCN2A
2 1.000 2 165354339 frameshift variant GA/- del 0.700 1.000 34 1991 2017
dbSNP: rs1555533842
rs1555533842
NF1
3 1.000 17 31330303 frameshift variant -/C delins 0.700 1.000 34 1967 2017
dbSNP: rs1554698878
rs1554698878
HNRNPK
4 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
4 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
dbSNP: rs797044938
rs797044938
KCNQ2
2 20 63442529 missense variant C/A;G snv 0.700 1.000 29 1980 2017
dbSNP: rs869025411
rs869025411
FBN1
4 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016
dbSNP: rs1382415023
rs1382415023
SON
3 1.000 21 33554945 frameshift variant GAAA/- delins 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
4 1.000 21 33554005 frameshift variant ACTC/- del 0.700 1.000 28 1988 2016
dbSNP: rs1555899242
rs1555899242
SON
2 1.000 21 33554269 stop gained G/T snv 0.700 1.000 28 1988 2016
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
dbSNP: rs886039774
rs886039774
SON
2 21 33554777 frameshift variant GA/- delins 0.700 1.000 28 1988 2016
dbSNP: rs1554777375
rs1554777375
STXBP1
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
STXBP1
2 9 127682485 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1555859593
rs1555859593
ATP1A3
3 1.000 19 41970483 missense variant G/T snv 0.700 1.000 27 1988 2017
dbSNP: rs796053361
rs796053361
STXBP1
4 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 27 1998 2016
dbSNP: rs797044897
rs797044897
ATP1A3
1 19 41984940 missense variant T/C snv 0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537
ATP1A3
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 1.000 27 1988 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017