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: rs80356713
rs80356713
ABCB7
3 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001
dbSNP: rs1114167423
rs1114167423
APTX
6 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
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: rs1563945076
rs1563945076
APTX
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs28940893
rs28940893
ARSA
6 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.010 1.000 1 2006 2006
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.720 1.000 2 2012 2018
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: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
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: rs79267946
rs79267946
CA8
2 1.000 0.160 8 60232322 stop gained T/A;C snv 0.700 0
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2015
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.710 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: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121908217
rs121908217
CACNA1A
9 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121908224
rs121908224
CACNA1A
2 1.000 0.080 19 13235262 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1568440440
rs1568440440
CACNA1A
3 0.925 0.120 19 13228767 stop gained GT/- delins 0.700 0
dbSNP: rs755221106
rs755221106
CACNA1G
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020