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: rs121918616
rs121918616
ATP1A2
3 0.882 0.080 1 160130283 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1402027664
rs1402027664
CACNA1A
2 0.925 0.080 19 13312697 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs35737760
rs35737760
CACNA1E
3 0.925 0.040 1 181732663 missense variant T/A snv 0.13 0.13 0.010 1.000 1 2017 2017