Source: CLINVAR

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: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C1848207
Disease: Poor speech
Poor speech 		0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0