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: rs879255516
rs879255516
CTCF
1.000 16 67628550 missense variant C/T snv
CUI: C3809686
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		0.800 1.000 0 2013 2013
dbSNP: rs1555534067
rs1555534067
CTCF
1.000 16 67610907 stop gained C/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2017
dbSNP: rs1555534147
rs1555534147
CTCF
1.000 16 67611444 frameshift variant GAAA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2017
dbSNP: rs1555534189
rs1555534189
CTCF
1.000 16 67611949 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2017
dbSNP: rs1555534189
rs1555534189
CTCF
1.000 16 67611949 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2008 2017
dbSNP: rs1555535739
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 6 2008 2017
dbSNP: rs1555535739
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2008 2017
dbSNP: rs1555535739
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2017
dbSNP: rs1567608876
rs1567608876
CTCF
1.000 16 67611604 frameshift variant AAAA/- delins
CUI: C3809686
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		0.700 0
dbSNP: rs1567609067
rs1567609067
CTCF
1.000 16 67612017 missense variant G/A snv
CUI: C3809686
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		0.700 0
dbSNP: rs879255570
rs879255570
CTCF
1.000 16 67611206 frameshift variant -/T delins
CUI: C3809686
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		0.700 0
dbSNP: rs879255571
rs879255571
CTCF
1.000 16 67620792 frameshift variant -/A delins
CUI: C3809686
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		0.700 0