Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057524820
rs1057524820
0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
Mental Disorders 0.700 0
dbSNP: rs878853250
rs878853250
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
Mental Disorders 0.700 0