ZNF142, zinc finger protein 142, 7701

N. diseases: 20; N. variants: 24
Disease: Global developmental delay ×
Source: ALL
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: rs1447313633
rs1447313633 		1.000 2 218649090 frameshift variant TT/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368 		1.000 2 218646330 frameshift variant C/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500 		0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019