Source: CURATED

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: rs1057519511
rs1057519511
BRPF1
1.000 3 9734500 frameshift variant AG/- delins
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.700 0
dbSNP: rs1057519522
rs1057519522
EBF3
1.000 10 129877788 stop gained G/A snv
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.700 0
dbSNP: rs1555349214
rs1555349214
NKX2-1 ; SFTA3 ; NKX2-1-AS1
14 36517838 frameshift variant G/- delins
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.700 0
dbSNP: rs869312704
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.700 0