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: rs1057518674
rs1057518674 		1.000 1 153818075 stop gained G/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1057521041
rs1057521041 		1.000 1 153813428 missense variant C/A;T snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1064793829
rs1064793829 		0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1064793829
rs1064793829 		0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1064793829
rs1064793829 		0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1064793829
rs1064793829 		0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 1.000 1 2017 2017
dbSNP: rs1064793829
rs1064793829 		0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs112780312
rs112780312 		1 153824539 intron variant G/A snv 0.25
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2018
dbSNP: rs1131692164
rs1131692164 		1.000 1 153828267 frameshift variant -/CATCA delins
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1131692165
rs1131692165 		1.000 1 153818833 frameshift variant CTTT/- delins
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs147355776
rs147355776 		1 153875494 intron variant A/C snv 2.5E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553187362
rs1553187362 		1.000 1 153811842 stop gained G/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1553187443
rs1553187443 		1.000 1 153812123 stop gained G/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1553187446
rs1553187446 		1.000 1 153812126 stop gained C/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1553188463
rs1553188463 		1.000 1 153818853 stop gained G/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1557778985
rs1557778985 		1.000 1 153813258 stop gained G/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		Digestive System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 0