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: rs587777624
rs587777624 		0.925 0.240 19 18163059 missense variant T/C snv
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2012 2016
dbSNP: rs587776934
rs587776934 		0.851 0.320 19 18162974 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 2011 2017
dbSNP: rs587776934
rs587776934 		0.851 0.320 19 18162974 missense variant G/A snv
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2006 2017
dbSNP: rs372272045
rs372272045 		1.000 0.120 19 18167239 missense variant G/C;T snv
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2012 2016
dbSNP: rs587776934
rs587776934 		0.851 0.320 19 18162974 missense variant G/A snv
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 4 2012 2017
dbSNP: rs1057519801
rs1057519801 		1.000 19 18167251 missense variant A/G snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2011 2011
dbSNP: rs1568636630
rs1568636630 		1.000 0.120 19 18162453 missense variant C/G snv
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041591
rs886041591 		0.925 0.240 19 18162983 missense variant A/G snv
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776934
rs587776934 		0.851 0.320 19 18162974 missense variant G/A snv
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.020 1.000 2 2015 2016
dbSNP: rs552434792
rs552434792 		1.000 0.160 19 18166272 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs587776934
rs587776934 		0.851 0.320 19 18162974 missense variant G/A snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs587777624
rs587777624 		0.925 0.240 19 18163059 missense variant T/C snv
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs766061667
rs766061667 		19 18168775 missense variant C/T snv 4.1E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs886041591
rs886041591 		0.925 0.240 19 18162983 missense variant A/G snv
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016