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: rs1448259271
rs1448259271
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
Mental Disorders 0.700 0
dbSNP: rs1555377415
rs1555377415
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
Mental Disorders 0.700 0
dbSNP: rs1566785990
rs1566785990
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
Mental Disorders 0.700 0