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: rs1554122526
rs1554122526 		0.882 0.040 5 150256811 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs17656349
rs17656349 		1.000 0.040 5 150226431 intron variant C/T snv 0.45
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17656349
rs17656349 		1.000 0.040 5 150226431 intron variant C/T snv 0.45
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4958456
rs4958456 		5 150243802 intron variant C/T snv 0.13
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 0
dbSNP: rs1554121878
rs1554121878 		1.000 5 150250310 splice acceptor variant C/T snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 0
dbSNP: rs10051644
rs10051644 		1.000 0.080 5 150227185 intron variant T/C snv 0.24
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019