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: rs1064797245
rs1064797245 		0.776 0.280 19 41970540 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1988 2017
dbSNP: rs1555859157
rs1555859157 		1.000 19 41968833 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593 		1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593 		1.000 19 41970483 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593 		1.000 19 41970483 missense variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 27 1988 2017
dbSNP: rs200891944
rs200891944 		19 41981976 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1988 2017
dbSNP: rs606231435
rs606231435 		0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1988 2017
dbSNP: rs797044897
rs797044897 		19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537 		0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537 		0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.810 1.000 14 2004 2016
dbSNP: rs587777771
rs587777771 		0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.870 1.000 8 2014 2019
dbSNP: rs80356534
rs80356534 		0.925 0.040 19 41978041 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.800 1.000 8 2004 2014
dbSNP: rs387907281
rs387907281 		0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.070 1.000 7 2013 2018
dbSNP: rs387907281
rs387907281 		0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.070 1.000 7 2013 2018
dbSNP: rs1064797245
rs1064797245 		0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 6 2015 2018
dbSNP: rs387907281
rs387907281 		0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.710 1.000 6 2012 2018
dbSNP: rs398122887
rs398122887 		0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 6 2012 2015
dbSNP: rs80356537
rs80356537 		0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 6 2012 2016
dbSNP: rs1064797245
rs1064797245 		0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 5 2015 2018
dbSNP: rs267606670
rs267606670 		0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 5 2009 2014
dbSNP: rs398122887
rs398122887 		0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs534926223
rs534926223 		1.000 19 41970490 missense variant G/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs536681257
rs536681257 		0.882 0.080 19 41970298 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs542652468
rs542652468 		0.882 19 41986177 missense variant G/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs549006436
rs549006436 		0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016