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: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/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: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092 		1.000 7 44254555 missense variant C/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: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092 		1.000 7 44254555 missense variant C/T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs555460132
rs555460132 		1.000 0.080 7 44228798 missense variant G/A snv 1.9E-04 2.0E-04
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0085631
Disease: Agitation
Agitation 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0003578
Disease: Apnea
Apnea 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092 		1.000 7 44254555 missense variant C/T snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs3757837
rs3757837 		1.000 0.040 7 44237052 intron variant T/C snv 0.15
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/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: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/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: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A 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: rs1554402092
rs1554402092 		1.000 7 44254555 missense variant C/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: rs1554434435
rs1554434435 		1.000 7 44284206 stop gained G/A 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: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0