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: rs121908377
rs121908377
FOXP2
1.000 0.120 7 114662075 missense variant G/A snv
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.810 1.000 1 2001 2017
dbSNP: rs121908378
rs121908378
FOXP2
1.000 0.120 7 114642616 stop gained C/T snv
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.710 1.000 1 2005 2012
dbSNP: rs201649896
rs201649896
FOXP2
1.000 0.120 7 114426561 missense variant A/T snv 4.3E-04 3.3E-04
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 1.000 1 2005 2005
dbSNP: rs761316361
rs761316361
FOXP2
1.000 0.120 7 114629883 inframe insertion ACAACAGCAGCA/-;ACAACAGCAGCAACAACAGCAGCA delins 6.3E-05
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 1.000 1 2005 2005
dbSNP: rs879253771
rs879253771
FOXP2 ; MIR3666
1.000 0.120 7 114652275 frameshift variant CA/- delins
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 1.000 1 2013 2013
dbSNP: rs879253772
rs879253772
FOXP2
1.000 0.120 7 114659617 missense variant T/C snv
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 1.000 1 2010 2010
dbSNP: rs1135401820
rs1135401820
FOXP2
1.000 0.120 7 114662188 splice donor variant T/C snv
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 0
dbSNP: rs1178491246
rs1178491246
FOXP2
1.000 0.120 7 114658225 stop gained C/A;T snv 4.0E-06
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 0
dbSNP: rs61745597
rs61745597
ZGRF1
1.000 0.120 4 112623837 missense variant G/A;C;T snv 4.1E-06; 1.2E-02
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 0
dbSNP: rs76187047
rs76187047
ZGRF1
1.000 0.120 4 112585555 missense variant C/G;T snv 4.1E-06; 1.3E-02
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.700 0