Gene: SCN1A ×
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: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
8 0.790 0.080 2 166052869 missense variant G/A;C snv 0.800 1.000 21 2003 2017
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.700 1.000 21 2003 2017
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
5 0.827 0.080 2 166037886 missense variant G/A;T snv 0.800 1.000 25 2003 2017
dbSNP: rs121918624
rs121918624
SCN1A ; SCN1A-AS1
5 0.827 0.080 2 166052882 stop gained G/A snv 0.700 1.000 9 2001 2015
dbSNP: rs794726827
rs794726827
SCN1A ; SCN1A-AS1
6 0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 0.700 1.000 2 2003 2015
dbSNP: rs121917971
rs121917971
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166037885 missense variant C/G;T snv 0.800 1.000 31 2003 2017
dbSNP: rs121917918
rs121917918
SCN1A ; SCN1A-AS1
4 0.851 0.040 2 166058651 missense variant C/A;T snv 0.800 1.000 25 2003 2017
dbSNP: rs121917935
rs121917935
SCN1A ; SCN1A-AS1
4 0.851 0.040 2 166054660 missense variant C/A;T snv 0.800 1.000 21 2003 2017
dbSNP: rs121917964
rs121917964
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166073371 missense variant T/C snv 0.800 1.000 21 2003 2017
dbSNP: rs121918803
rs121918803
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.851 0.040 2 166009745 missense variant C/G snv 0.700 1.000 21 2003 2017
dbSNP: rs121917993
rs121917993
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.851 0.040 2 165994212 missense variant G/A snv 0.700 1.000 20 2003 2017
dbSNP: rs398123585
rs398123585
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166043875 stop gained G/A;T snv 4.0E-06 0.700 1.000 5 2006 2015
dbSNP: rs794726718
rs794726718
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166037930 missense variant C/G;T snv 0.700 1.000 4 2011 2015
dbSNP: rs121918791
rs121918791
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.080 2 165992333 missense variant G/A snv 0.800 1.000 24 2002 2017
dbSNP: rs121917921
rs121917921
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165991927 missense variant G/A snv 0.800 1.000 22 2003 2017
dbSNP: rs121917976
rs121917976
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.080 2 165992341 missense variant C/G;T snv 0.800 1.000 22 2003 2017
dbSNP: rs121917986
rs121917986
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.800 1.000 22 2003 2017
dbSNP: rs121918744
rs121918744
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.080 2 165992221 missense variant G/A;T snv 0.700 1.000 21 2003 2017
dbSNP: rs121918792
rs121918792
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165992255 missense variant C/G snv 0.700 1.000 21 2003 2017
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165991549 missense variant G/A snv 0.800 1.000 20 2003 2017
dbSNP: rs794726730
rs794726730
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166042334 stop gained G/A snv 0.700 1.000 6 2006 2015
dbSNP: rs727504136
rs727504136
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166012255 stop gained G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.882 0.160 2 166013812 stop gained G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs794726775
rs794726775
SCN1A ; SCN1A-AS1
4 0.882 0.040 2 166039420 splice region variant T/A snv 0.700 1.000 3 2007 2015