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: rs1553270522
rs1553270522
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 26 1997 2017
dbSNP: rs1553270522
rs1553270522
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 26 1997 2017
dbSNP: rs1553270522
rs1553270522
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
0.925 1 244055156 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
0.925 1 244055156 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
0.925 1 244055156 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 26 1997 2017
dbSNP: rs875989786
rs875989786
1.000 1 244054957 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 26 1997 2017
dbSNP: rs12027747
rs12027747
1 244049564 intron variant C/T snv 0.29
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1060499655
rs1060499655
1.000 1 244054373 frameshift variant C/- del
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1064792999
rs1064792999
1.000 1 244054357 stop gained C/A;T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1085307108
rs1085307108
1.000 1 244054717 frameshift variant AG/- del
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1135401770
rs1135401770
1.000 1 244053916 stop gained C/G;T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1135401770
rs1135401770
1.000 1 244053916 stop gained C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1553270599
rs1553270599
1.000 1 244055075 missense variant T/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1553270634
rs1553270634
1.000 1 244055218 missense variant C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1553270640
rs1553270640
1.000 1 244055267 missense variant A/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs1558149913
rs1558149913
1.000 1 244055165 missense variant G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs398122406
rs398122406
1.000 1 244054171 stop gained G/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs750922282
rs750922282
1.000 1 244055164 missense variant C/A;T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs797044885
rs797044885
0.925 1 244055156 missense variant A/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs869312689
rs869312689
0.925 0.160 1 244053934 missense variant T/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312689
rs869312689
0.925 0.160 1 244053934 missense variant T/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.700 0
dbSNP: rs869312689
rs869312689
0.925 0.160 1 244053934 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs869312689
rs869312689
0.925 0.160 1 244053934 missense variant T/C snv
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312689
rs869312689
0.925 0.160 1 244053934 missense variant T/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0