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: rs1060505033
rs1060505033
ZNF711
1.000 0.200 X 85264383 missense variant T/C snv
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.800 1.000 0 2009 2017
dbSNP: rs1555970404
rs1555970404
ZNF711
0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 2 2009 2017
dbSNP: rs1555970404
rs1555970404
ZNF711
0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 1.000 2 2009 2017
dbSNP: rs1555970404
rs1555970404
ZNF711
0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.700 1.000 2 2009 2017
dbSNP: rs1060505032
rs1060505032
ZNF711
1.000 0.200 X 85271595 frameshift variant T/- delins
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.700 0
dbSNP: rs1060505033
rs1060505033
ZNF711
1.000 0.200 X 85264383 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555974716
rs1555974716
ZNF711
1.000 0.200 X 85270774 frameshift variant -/A delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555974716
rs1555974716
ZNF711
1.000 0.200 X 85270774 frameshift variant -/A delins
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.700 0
dbSNP: rs199422240
rs199422240
ZNF711
1.000 0.200 X 85271115 stop gained A/T snv
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.700 0