Source: BEFREE ×
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: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1318256630
rs1318256630
SPTBN2
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs373893038
rs373893038
TRIO
1 5 14387508 missense variant C/T snv 8.0E-06 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs770684782
rs770684782
SETX
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.020 1.000 2 2008 2018
dbSNP: rs63750231
rs63750231
PSEN1
18 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs28933385
rs28933385
PRNP
24 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
13 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs61755320
rs61755320
SPG7
8 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.020 1.000 2 2019 2019
dbSNP: rs113994097
rs113994097
POLG
19 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.030 1.000 3 2007 2010
dbSNP: rs121908212
rs121908212
CACNA1A
10 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
dbSNP: rs74315407
rs74315407
PRNP
14 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs1064797245
rs1064797245
ATP1A3
9 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
dbSNP: rs181109321
rs181109321
TTPA
2 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.010 1.000 1 1999 1999
dbSNP: rs121908225
rs121908225
CACNA1A
11 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2015
dbSNP: rs58982919
rs58982919
NEFL
6 0.790 0.080 8 24956223 missense variant T/C snv 0.020 1.000 2 2016 2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
4 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs267606670
rs267606670
ATP1A3
2 0.790 0.320 19 41968837 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs727502818
rs727502818
KCNC1
7 0.790 0.160 11 17772053 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519429
rs1057519429
CACNA1A
3 0.807 0.240 19 13235666 missense variant C/G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs143319805
rs143319805
OPA1
10 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs606231435
rs606231435
ATP1A3
2 0.827 0.240 19 41970539 missense variant C/T snv 0.720 1.000 2 2012 2018
dbSNP: rs121918100
rs121918100
TTR
9 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918544
rs121918544
TINF2
6 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008