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: rs121912737
rs121912737
ATP2A2
2 0.925 0.080 12 110340702 missense variant C/T snv 0.830 1.000 3 2003 2017
dbSNP: rs387906594
rs387906594
ATP2A2
1 1.000 0.080 12 110340990 missense variant C/T snv 0.710 1.000 1 2012 2012