Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894735
rs104894735
AP1S2
1.000 0.120 X 15852371 stop gained G/A snv
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs104894739
rs104894739
AP1S2
1.000 0.120 X 15852419 stop gained G/A snv
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs1060499672
rs1060499672
AP1S2
1.000 0.120 X 15852527 splice region variant G/T snv
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs137852213
rs137852213
AP1S2
1.000 0.120 X 15845965 stop gained C/A snv
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs1555904182
rs1555904182
AP1S2
1.000 0.120 X 15845910 frameshift variant A/- delins
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs587776738
rs587776738
AP1S2
1.000 0.120 X 15846013 splice acceptor variant TGTA/- del
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs587776739
rs587776739
AP1S2
1.000 0.120 X 15845898 splice region variant C/T snv
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0
dbSNP: rs587777542
rs587777542
AP1S2
1.000 0.120 X 15845378 splice donor variant C/A snv
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		0.700 0