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: rs10157763
rs10157763
AKT3
2 1.000 0.040 1 243831739 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs121908165
rs121908165
HAX1
4 0.925 0.120 1 154273538 stop gained C/G;T snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs587780455
rs587780455
SCN8A
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs80356537
rs80356537
ATP1A3
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016