Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777771
rs587777771
ATP1A3
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.870 1.000 0 2014 2019
dbSNP: rs587777771
rs587777771
ATP1A3
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 2 2014 2014
dbSNP: rs587777771
rs587777771
ATP1A3
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0