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: rs587777406
rs587777406
DEAF1
1.000 11 686979 missense variant A/C snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 0 2010 2014
dbSNP: rs587777408
rs587777408
DEAF1
1.000 11 686992 missense variant G/A snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 0 2010 2014
dbSNP: rs587777409
rs587777409
DEAF1
1.000 11 686900 missense variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 0 2010 2014
dbSNP: rs1554944527
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2010 2017
dbSNP: rs1554944527
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2017
dbSNP: rs1554944527
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 2010 2017
dbSNP: rs587777623
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2010 2017
dbSNP: rs587777623
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 4 2014 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0031873
Disease: Pica Disease
Pica Disease 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 1.000 2 2017 2017