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: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs104894699
rs104894699
KCNC3
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs118204096
rs118204096
HMBS
3 1.000 0.160 11 119091432 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918514
rs121918514
PRKCG
4 0.925 0.080 19 53889705 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918518
rs121918518
PRKCG
3 1.000 0.080 19 53889655 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121918544
rs121918544
TINF2
7 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1335702493
rs1335702493
APTX
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs137852763
rs137852763
MRE11
6 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1424215334
rs1424215334
SLC3A1
3 1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs28933381
rs28933381
KCNA1
4 0.925 0.080 12 4912102 missense variant G/C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs28933383
rs28933383
KCNA1
8 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3512
rs3512
FAN1 ; MTMR10
4 0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2020 2020