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: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
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: rs796053124
rs796053124
SCN2A
4 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs121908226
rs121908226
CACNA1A
2 0.925 0.120 19 13231847 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs137852620
rs137852620
SLC1A3
2 0.925 0.080 5 36674080 missense variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1805031
rs1805031
CACNB4
5 0.851 0.080 2 151880879 missense variant C/A snv 4.7E-04 7.3E-04 0.010 1.000 1 2000 2000
dbSNP: rs863224852
rs863224852
CACNA1A
3 0.882 0.160 19 13359680 missense variant C/T snv 0.010 1.000 1 2016 2016