Gene: ATP8A2 ×
Source: CLINVAR ×
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: rs1156904586
rs1156904586
ATP8A2
3 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 2012 2017