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: rs1318353774
rs1318353774
CACNA1A
2 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
CACNA1A
1 1.000 19 13298847 frameshift variant -/A ins 0.700 1.000 46 1988 2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
2 1.000 9 128203604 missense variant G/A snv 0.700 1.000 38 1983 2017
dbSNP: rs1554773487
rs1554773487
DNM1
1 1.000 9 128220205 missense variant G/T snv 0.700 1.000 38 1983 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: rs1555534380
rs1555534380
NF1
1 1.000 17 31334860 stop gained T/A snv 0.700 1.000 34 1967 2017
dbSNP: rs1555535052
rs1555535052
NF1
1 1.000 17 31338798 frameshift variant -/TA delins 0.700 1.000 34 1967 2017
dbSNP: rs797044916
rs797044916
CDC42
1 1.000 1 22078546 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs1555393647
rs1555393647
FBN1
1 1.000 15 48412588 frameshift variant -/T delins 0.700 1.000 29 1986 2016
dbSNP: rs1555850868
rs1555850868
KCNQ2
2 1.000 20 63407149 frameshift variant G/- delins 0.700 1.000 29 1980 2017
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: rs1555899379
rs1555899379
SON
2 1.000 21 33554726 stop gained CTG/- del 0.700 1.000 28 1988 2016
dbSNP: rs1555859157
rs1555859157
ATP1A3
1 1.000 19 41968833 missense variant A/G snv 0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
3 1.000 19 41970483 missense variant 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
dbSNP: rs1554928978
rs1554928978
FGFR2
2 1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins 0.700 1.000 26 1985 2017
dbSNP: rs1555226081
rs1555226081
SCN8A
2 1.000 12 51768899 missense variant C/T snv 0.700 1.000 26 1995 2017
dbSNP: rs797044953
rs797044953
SETD5
3 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018
dbSNP: rs1553521389
rs1553521389
CUL3
3 1.000 2 224503679 frameshift variant AG/- delins 0.700 1.000 25 1986 2016
dbSNP: rs1553602498
rs1553602498
CUL3
1 1.000 2 224497809 stop gained G/A snv 0.700 1.000 25 1986 2016
dbSNP: rs1554770044
rs1554770044
GRIN1
1 1.000 9 137162182 missense variant G/A snv 0.700 1.000 25 1983 2017
dbSNP: rs1555184787
rs1555184787
KMT2D
2 1.000 12 49022591 frameshift variant -/G delins 0.700 1.000 25 1988 2017