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: rs546968533
rs546968533
ATP8A2
1 1.000 13 25553863 missense variant C/G;T snv 8.8E-05 0.800 1.000 1 2013 2013
dbSNP: rs1156904586
rs1156904586
ATP8A2
3 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs202017613
rs202017613
ATP8A2
1 1.000 13 25699294 missense variant G/A snv 4.3E-04 3.8E-04 0.700 0