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: rs121908217
rs121908217
CACNA1A
9 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.020 1.000 2 2002 2012
dbSNP: rs121918612
rs121918612
ATP1A2
3 0.925 0.040 1 160127704 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs201920319
rs201920319
THG1L
4 0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs747176196
rs747176196
MFN2
3 1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2016 2016